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Dystonia: A Guide to Good Practice for Health and Social Care Professionals The Dystonia Society 2nd Floor, 89 Albert Embankment London SE1 7TP Office: 0845 458 6211Email enquiries: [email protected]: www.dystonia.org.ukHelpline: 0845 458 6322Email helpline: [email protected] Registered Charity No. 1062595 and SC042127 Company limited by guarantee No. 3309777 Impact of dystonia on other medical support Dystonia in brief Role of the GP in managing dystonia Types of dystonia by classification and symptoms Early-onset dystonia Treatments in brief The social impact of dystonia Identifying and referring cases of dystonia Isolation and feeling ostracised The role of non-specialist medical professionals Problems with driving Difficulties with welfare benefits Common GP misdiagnoses / indicators to avoid misdiagnosis Difficulties with personal care Impact on employment Diagnosis and treatment of dystonia The social impact of dystonia on young people The role of the consultant neurologist or other specialist The impact of dystonia on parents and carers Treatment for adults Treatment for children Further sources of information Tertiary based neurology teams The role of the dystonia nurse Outreach / home visit models About The Dystonia Society Patient pathway flowcharts Adults with dystonia Children and young people with dystonia Example of specific adult dystonia pathway: Walkergate Park Additional support for patients with dystonia Speech and Language Therapy Occupational Therapy Psychological Therapy Genetic Counselling Complementary Therapies Additional support for young people with dystonia Checklists of additional support DYSTONIA • A GUIDE TO GOOD PRACTICE DYSTONIA • A GUIDE TO GOOD PRACTICE SECTION 1 About dystonia Dystonia causes involuntary and sometimes painful 1.1 Dystonia in brief muscle spasms as a result of incorrect signals from the brain. These muscle spasms can force affected parts of A neurological condition characterised by involuntary and sustained muscle spasms which can force the body into abnormal movements or postures.
affected parts of the body into abnormal movements or postures. Dystonia is an umbrella term coveringa number of conditions. In most cases, it affects the motor pathways in the brain that control Dystonia can affect speech, sight and mobility.
recruitment and movement of muscles causing them to perform an action that leads to unwantedspasms.
There are thought to be over 70,000 adults and children in the UK who have some form ofdystonia. At present there is no cure, although there are treatments which can help to alleviate symptoms. As a health or social care professional, it is likely that you encounter dystonia: it is Dystonia leads to sustained abnormal postures or repetitive movements of the affected body part.
estimated that there are at least 7 people with dystonia in each GP practice. Typically, the abnormal postures are not fixed, and slow writhing movements can occur (athetosis) Expert care is vital at every stage in helping those with dystonia to achieve the best possible where the dominant muscle activity switches from agonist to antagonist and back again. Dystonia quality of life. This document provides: can affect movement, posture, speech, sight and mobility but not intellect. Living with dystonia can be painful and debilitating, as well as embarrassing and stigmatising. Work, social activities • An authoritative guide to best practice for health / social care professionals who are and quality of life may be significantly impacted.
involved in the treatment and support of people with dystonia and their families.
• Guidance for managers responsible for configuring health services on the key issues relating to dystonia and best practice for delivery of services.
The experience of pain in dystonia varies between patients. Some experience extremely intense levels of pain, others very little. However, serious levels of pain are reported by large numbers of patients, • Information about the impact of dystonia on people's lives – to give an insight into most commonly in cervical dystonia, and pain management is an important aspect of treatment. common problems and to enable the professionals involved to take positive steps towards resolving them.
Parts of body affected The most common dystonias affect the neck or eyes. Others parts of the body affected include trunk, Although an overview of diagnostic and treatment processes for dystonia is included, this is limbs, hand, voice, mouth and tongue. Adult-onset dystonia is usually focal, affecting one or two intended as general information only and not suitable to be used as an algorithm to support the parts of the body, while early-onset dystonia often generalises to affect multiple parts of the body.
work of specialists such as neurologists and others responsible for treating and diagnosingdystonia. Why is this guide important? Causes vary and include gene mutations, brain lesions, premature birth, disorders of body biochemistryknown as inborn errors of metabolism, and exposure to drugs or chemicals. Some focal dystonias may The Dystonia Society's principal aim is to ensure that everyone affected by dystonia has access arise from repetitive activity leading to over-excitability of the regions of the brain associated with the to the most appropriate treatment, support and information. It also works to increase awareness muscles involved. However, a high proportion of cases have no identifiable cause.
of this condition amongst health professionals and the public. We know from our members and from callers to our helpline that the condition is often poorly understood. It can sometimes take many frustrating years to get an accurate diagnosis. Once a Most of the clinical evidence points to the basal ganglia as the site of pathology in dystonia. The diagnosis has been achieved, there may be difficulties in accessing proper treatment. This guide basal ganglia are situated at the base of the forebrain and are associated with a variety of functions, has been compiled with the help of many medical, social care and educational experts who, like including motor control (Warner & Bressman 2007).
us, wish to ensure that these problems become a thing of the past, and that everyone who has dystonia gets the care and support they need.
Cases of dystonia often require specialists to establish the specific diagnosis, but the hallmarks of Note: This document was published in 2011 and will be reprinted as new information or dystonia, irrespective of cause, are identifiable by all health professionals. Depending on the part recommendations become available. The most up to date version is available on the Dystonia of the body affected, diagnosis is usually by either a neurologist specialising in movement disorders Society's website: www.dystonia.org.uk or another specialist such as an ear, nose and throat surgeon. Dystonia often goes unrecognised by To find out more about dystonia, contact the Dystonia Society www.dystonia.org.uk or go to healthcare professionals and frequently patients are not diagnosed for many years after symptom the online learning module devised by the Dystonia Society and British Medical Journal. Enter onset. GPs and other medical professionals therefore need to be alert to the possible symptoms of learning.bmj.com in any browser to go to the BMJ website. Once registered, you will find the dystonia so they can make prompt referrals to the relevant specialist.
dystonia module under Neurological Problems. The module will help you to understand some of the common forms of dystonia and treatments.
Dystonia is usually abolished by sleep and returns immediately on waking, except a rare form calleddopa-responsive dystonia in which there may be marked fluctuations in function throughout the day:very good in the morning but worsening during the course of the day, but improved by sleep.
DYSTONIA • A GUIDE TO GOOD PRACTICE DYSTONIA • A GUIDE TO GOOD PRACTICE SECTION 1 About dystonia SECTION 1 About dystonia 3. By distribution Rarely fatal but there is currently no cure. However, in many cases it can be effectively managed with FOCAL: single body region botulinum toxin, medication, surgery and other therapies.
SEGMENTAL: contiguous body regions Example: cranial and cervical, cervical and upper limb Not precisely known, but the Dystonia Society believes that there are at least 70,000 people in the MULTIFOCAL: non-contiguous body regions UK affected by dystonia. This equates to a prevalence of 1 in 900. At least 8,000 of these are children Example: upper and lower limb, cranial and upper limb and young people. Defazio (2010) suggests that, based on minimum prevalence estimates, primarydystonia should be considered the third most frequent movement disorder after essential tremor GENERALISED: both legs and at least one other body region and Parkinson's disease.
(usually one or both arms) HEMIDYSTONIA: half of the body Dystonia has been known about for over 100 years. For some time it was thought to be of psychiatric (usually secondary to structural lesion in contra-lateral basal ganglia) origin and patients were given various psychiatric treatments. Only in recent decades has it beenrecognised as an organic neurological disorder (Warner & Bressman 2007).
1.2 Classification Classification of dystonia is based on 3 axes (Albanese et al 2010) PRIMARY DYSTONIAS Primary pure dystonias: torsion dystonia is the only clinical sign (apart from tremor), and there is no identifiable exogenous cause or other inherited or degenerative disease. Primary plus dystonias: torsion dystonia is a prominent sign but is associated with another movementdisorder, for example myoclonus or parkinsonism. There is no evidence of neurodegeneration.
Primary paroxysmal dystonia: torsion dystonia occurs in brief episodes with normality in between.
These disorders are classified as idiopathic (often familial although sporadic cases also occur) andsymptomatic because of a variety of causes. Heredodegenerative dystonias: dystonia is a feature, amongst other neurological signs, of aheredodegenerative disorder. Example: Wilson's disease.
SECONDARY DYSTONIAS Dystonia is a symptom of an identified neurological condition, such as a focal brain lesion, exposure to drugs or chemicals. Examples: dystonia due to brain tumour, off-period dystonia in Parkinson'sdisease, tardive dystonia which is drug-induced, some forms of cerebral palsy including prematuredelivery and birth injuries, metabolic disorders.
Patients describe experiencing dystonia 2. By age at onset It felt like my head was trying to twist down my back.
(variably defined as 2 – 30 years): Usually starts in a leg or arm and frequently progresses to involve other limbs and the trunk.
The pain is like having a red hot poker in my neck. The psychological and emotional pain was so engulfing Usually starts in the neck (including the larynx), the cranial muscles or one arm. Tends to remain "– it seemed unending.
localised with restricted progression to adjacent muscles.
I feel I have been evicted from my own life.
DYSTONIA • A GUIDE TO GOOD PRACTICE DYSTONIA • A GUIDE TO GOOD PRACTICE SECTION 1 About dystonia SECTION 1 About dystonia 1.3 Types of dystonia by classification and symptoms Throughout the body, • Turning in or dragging of foot or leg particularly the trunk • Clumsy or unsteady walking • Painful twisting postures• Can lead to permanent deformity• Spread to involve other parts of body Focal (sometimes part of • Causes head to twist • Can be extremely painful multifocal or segmental) • Often associated with tremor Focal (sometimes part of • Excessive blinking • In more severe cases, multifocal or segmental) eyes can spontaneously clamp shut Focal (sometimes part of • Strange movements of face and mouth multifocal or segmental) • In some cases, eating / swallowing difficult Laryngeal dystonia Focal (sometimes part of • Affects speech – voice either strangled multifocal or segmental) Forearm and / or hand • Hand and /or fingers contort, twist or go into (also called writer's cramp) spasm when used • Often specific to tasks Neck, trunk and arms • Jerking movements combined with other symptoms of dystonia Throughout the body, • Turning in or dragging of foot or leg particularly trunk and legs • Clumsy or unsteady walking /affects mobility• Painful twisting postures • Symptoms worsen as day goes on • Good response to drug levo-dopa Focal or generalised All or part of the body • Episodes during which dystonia affects the body – often hemidystonia or generalised • Episodes last from minutes to hours• Between episodes no sign of a problem Usually multifocal One or more of face, neck, • Face and /or tongue movements (caused by drugs) tongue, trunk, arm, leg • Spasms of trunk, neck, arm and /or leg Any site singly or in combination From focal to total body • Spasms of face, trunk and /or limbs involvement with difficulty • Difficulty feeding, sitting, lying, sleeping speaking and feeding • Difficulty with speech or unable to speak DYSTONIA • A GUIDE TO GOOD PRACTICE DYSTONIA • A GUIDE TO GOOD PRACTICE SECTION 1 About dystonia SECTION 1 About dystonia 1.4 Early-onset dystonia 1.5 Treatments in brief For more information see sections 3.3 and 3.4.
Age of onset is sub-classified as follows: While there is as yet no cure for dystonia, there are a number of different treatments that can be • Infantile dystonia: first symptoms start before age 2 years offered. These vary according to the type of dystonia, and the individual requirements and responses of the patient.
Childhood dystonia: first symptoms start between ages 2 – 12 years • Juvenile dystonia: first symptoms start between ages 13–25 years Botulinum Toxin injections In most cases of focal dystonia in adults, the usual treatment is regular injections of botulinum toxin Early-onset primary (or idiopathic) dystonias into the affected muscles. The frequency of injections is usually around every 12 weeks. Botulinum Early onset primary dystonias tend to be generalised and are most often of genetic origin. There toxin affects the nerves at their junction with the muscle. It prevents the release of acetylcholine are currently at least 12 known types of dystonia caused by gene mutations, of which 7 or 8 affect from the nerve endings and thereby prevents the involuntary muscle contractions.
children, including: Most commonly, a mutation in the DYT1 gene which causes primary generalised dystonia Oral medications are often the mainstay of treatment for treating dystonia in children and young A mutation in the DYT5 gene which causes Dopa-responsive dystonia, treatable with L-dopa people. They can tolerate higher doses than adults, but efficacy is variable, and several medications It is hoped that scientists will identify more dystonia genes as this may lead to greater understanding may be required in combination or in series to achieve symptom control at the expense of reduced and treatment of what are predominantly non-degenerative conditions (Carr 2009).
alertness and increased somnolence. There is no one drug that is the definitive treatment and other These genetic forms of dystonia can occur in a sporadic, autosomal dominant, autosomal recessive approaches may enable effective management (see section 3.4 for more information). Drugs are or x linked manner. Heritable childhood onset dystonia is common amongst some ethnic groups sometimes also used to treat dystonia in adults. However documentation of benefit in well-designed (for instance DYT1 dystonia is more common in Ashkenazi Jewish people). studies is lacking (see section 3.3 for more information).
If a parent is found to be positive for a DYT1 gene mutation, this does not mean that their children will automatically get dystonia. The child may not inherit the gene and, even if the child does, they Where all other treatments have failed to provide adequate improvement, Deep Brain Stimulation will not necessarily develop dystonia as penetrance is low – often only 30% in most genetic types (DBS) is considered a good option. In this procedure, two fine electrodes are inserted into the brain of dystonia (Warner & Bressman 2007). It is important for the parents to speak to a geneticist before powered by a battery implanted in the chest. The electrodes send a pulse that blocks the signals any decisions are made about future children, in order to be able to make an informed decision.
from the brain that cause the involuntary muscle spasms. Some other surgical treatments are alsooccasionally used (see section 3.3 for more information).
Secondary dystonia Early-onset secondary dystonia can result from a wide variety of neurological conditions or inherited metabolic defects. Symptoms begin suddenly at rest and are associated with different hereditary A number of studies have reported motor improvement in patients with writer's cramp and other and environmental causes. forms of focal dystonia following physical treatment and sensory and motor retraining.
Environmental causes include head trauma, stroke, brain tumour, infections in the brain, injury to Cognitive Behavioural Therapy (CBT) the spinal cord and a variety of drugs or toxins that affect the basal ganglia, thalamus or brain stem.
15% of children and young people who have cerebral palsy may have persistent dystonic symptoms There is currently little research evidence about the use of CBT in dystonia, but the principles on (Carr 2009). Dystonic symptoms may be overlooked and underdiagnosed (Lin, 2011; McClelland 2011).
which CBT is based suggest that it may be helpful in the management of some cases of dystonia. It may also help associated symptoms such as depression, anxiety, anger, sleep problems and Dystonia symptoms may be associated with other hereditary neurological syndromes such as chronic pain. Currently, CBT should be classified as experimental treatment.
Huntington's disease, Wilson's disease and Ataxia telangiectasia. Metabolic disorders causingsecondary dystonia are Lesch-Nehan syndrome, Niemann-Pick disease, Leigh's disease andHallervorden-Spatz Disease. Young people and parents describe experiences of early-onset dystonia All of these conditions are very rare (Edwards, Quinn & Bhatia 2008) in adult practice but collectively My daughter's tongue was going into spasm which caused problems more common in children's hospitals with neurological, neurodisability and metabolic services.
with eating and speaking.
For more information about how dystonia affects children and young people, see section 7.6.
The spasms in my arm stopped me writing – I had to teach myself to write left handed. Eventually, they were so bad I stopped going "to school and stayed in my room.
The symptoms started at 12 and it severely dented my self-esteem.
DYSTONIA • A GUIDE TO GOOD PRACTICE DYSTONIA • A GUIDE TO GOOD PRACTICE SECTION 2 Identifying and referring cases SECTION 2 Identifying and referring cases 2.1 The role of non-specialist medical professionals in identifying dystonia If a GP or other medical professional suspects a neurological movement disorder, they should enquire Getting an accurate diagnosis of dystonia can be difficult and can take many years because of a lack about general health, approximate timing of onset of the problem and note which body parts are of awareness amongst the public and medical professionals. People affected by dystonia are often affected, exclude serious co-existing medical disorders and offer support. A referral should be made referred to, and receive inappropriate treatment from, a variety of specialists such as physiotherapists to the following specialists who will be responsible for making the diagnosis and treating dystonia: and psychiatrists before getting a correct diagnosis. Non-specialist medical professionals have a rolein addressing this: General Practitioner Laryngeal dystonia Laryngologist or ENT (Ear, Nose and Throat) Surgeon The GP is usually the first person to be approached by someone who develops symptoms of dystonia.
Neurologist specialising in movement disorders The GP's key role is to recognise that the patient in their surgery may have a movement disorder or an ophthalmologist and to make a prompt referral to a specialist. Dystonia is something which all GPs need to be aware Oromandibular dystonia Neurologist specialising in movement disorders of. The Dystonia Society estimates that each GP practice has an average of 7 patients affected by or an ENT (Ear, Nose and Throat) Surgeon dystonia at any time of whom at least one-third will be undiagnosed.
Paediatric movement disorder neurologist or Dystonia can be difficult to diagnose because of its variability in presentation, the wide spectrum of affecting children paediatric neurologist causes and the coexistence of other movement disorders. It is often mistaken for a number of othermore common conditions or is assumed to be psychological. It is therefore vital that GPs are alert All other types of dystonia Neurologist specialising in movement disorders to the symptoms and willing to consider movement disorders if treatment for other conditions does not work or if symptoms persist. If in doubt, it can be helpful to ask the patient to prepare a symptom diary including drug, lifestyle and dietary changes to aid diagnosis and eliminate otherconditions. Section 2.3 shows the symptoms for the different types of dystonia and indicators thatmay prevent misdiagnoses.
Physiotherapists may frequently see patients with dystonia before they are diagnosed. Cervical dystonia,in particular, is often misdiagnosed as a neck injury and referred for physiotherapy. Some physio-therapy treatments such as deep massage and traction can aggravate dystonia and increase pain andspasms in the affected muscles. Physiotherapists need to be able to spot the signs of dystonia to avoidtreating inappropriately.
Psychiatrist / psychologist / counsellor Dystonias are frequently misdiagnosed as psychological problems. In these cases, the client may besent for psychiatric assessment or for therapeutic support. Therapists and psychiatrists therefore needto be aware that the presumed diagnosis may be incorrect and should be alert to signs of dystonia.
Psychiatrists also need to be aware that dystonia can be triggered by drugs used to managepsychiatric symptoms, including dopamine receptor blockers. It is therefore vital that baselineassessments of movement are made before the patient starts a course of these drugs. Regular People with dystonia describe the experience of seeking a diagnosis reassessment is required throughout the duration of the medication to ensure that any symptoms are identified quickly and appropriate changes in medication are made to eliminate or reduce the My foot started twisting in when I was 14. I spent the next symptoms. The longer these drugs are causing symptoms of dystonia or dyskinesia, the less likely it 7 years being told my symptoms were psychosomatic during is that the symptoms will be reversed. Where signs of dystonia appear, prompt referral needs to be which time the symptoms spread to my legs, arms and neck.
made to a neurologist specialising in these disorders.
Other medical professionals My doctor told me it was all in my head. He made me feel that "I was mentally ill. Other medical professionals may also encounter someone with undiagnosed dystonia when caringfor them because of another health problem. If they notice strange muscle spasms, tremors or body When I got the diagnosis after 5 years, I was full of joy knowing movements, it is important that the patient is encouraged to seek a referral through their GP to a it wasn't my imagination. I really did have an illness.
neurologist for diagnosis and management.
DYSTONIA • A GUIDE TO GOOD PRACTICE DYSTONIA • A GUIDE TO GOOD PRACTICE SECTION 2 Identifying and referring cases SECTION 2 Identifying and referring cases 2.3 Common GP misdiagnoses / indicators to avoid misdiagnoses SYMPTOMS COMMONLY INDICATORS FOR A GP THAT DIAGNOSIS MAY BE DYSTONIA • Turning in or dragging of foot or leg Orthopaedic problem • Movement worse at certain times of day or when stressed body, particularly • Clumsy or unsteady walking Psychological problem and tired • Movements often not present when sleeping the trunk and limbs • Painful twisting postures • Does not respond well to splinting or other corrective therapeutic techniques • Movement still present whenpatient unaware of being observed • Causes head to twist Neck damage, Head trauma • Does not respond to physiotherapy or pain killers • Does not • Can be extremely painful Pulled muscle / muscle strain clear up over time • Symptoms sometimes ease with sensory • Often associated with tremor Slept the wrong way tricks (such as putting a finger on the chin) • Movement Psychological problem still present when patient unaware of being observed • Excessive blinking Dry eye, Eye strain / tired • Does not respond to dry eye treatment • Usually present in both eyes eyes / tic (eg. from overuse • Does not clear up over time • In more severe cases, eyes can of computer or reading) • Dark glasses may ease symptoms spontaneously clamp shut Myasthenia Gravis • Symptoms sometimes respond to sensory tricks Psychological problem such as touching the corner of the eye • Strange movements of face and mouth Damage to the jaw, Tic • Does not respond to orthopaedic procedures • In some cases, eating / swallowing difficult Bruxism (teeth grinding) • No damage shows up on x-rays • Can be jaw open / jaw closed mix Dental problem, Orthopaedic • Does not clear up over time • Movement • Tongue protrusion or twisting or Psychological problem still present when patient unaware of being observed Laryngeal dystonia • Affects speech – voice either Throat cancer, Acid • Tests or scans of throat negative strangled or breathy reflux, Nerve damage • Does not clear up over time Psychological problem Forearm / hand (also • Hand / fingers contort, twist or go into Tendonitis, Orthopaedic • Not usually present all the time • Tends to be task called writer's cramp) spasm when used • Often specific to tasks or Psychological problem specific such as writing or playing a musical instrument Neck, trunk and arms • Jerking movements combined with Psychological problem • Family history of similar problems • Writers cramp quite other symptoms of dystonia common • May be associated with compulsive disorders • Turning in or dragging of foot or leg Orthopaedic problem • Movement better in the morning and worse at end of the day body, particularly • Clumsy or unsteady walking / affects Psychological problem or when stressed and tired • Movements often not present the trunk and legs mobility • Painful twisting postures when sleeping • Other family members affected • Movement • Symptoms worsen as day progresses still present when patient unaware of being observed • Episodes of dystonia or dyskinesia Psychological problem • Family history of similar problems lasting minutes to hours • Patient usually does not lose consciousness during an episode • Between episodes no sign of a problem • Face and /or tongue movements Psychological problem • History of having been prescribed antipsychotic or face, tongue, trunk, • Spasms of trunk, neck, arm and /or leg Epilepsy, Chorea antiemetic medication • History of illegal drug taking DYSTONIA • A GUIDE TO GOOD PRACTICE DYSTONIA • A GUIDE TO GOOD PRACTICE SECTION 3 Diagnosing and treating dystonia SECTION 3 Diagnosing and treating dystonia 3.1 The role of the consultant neurologist or other specialist Assessment of dystonia may be performed using a validated rating scale (eg. Burke-Fahn-MarsdenDystonia Rating Scale, TWSTRS, CDIP-58). They are most useful for measuring the effectiveness of Diagnosis and treatment of dystonia is usually the responsibility of a consultant neurologist specialising certain treatments such as deep brain stimulation. The use of a structured flow chart such as the in movement disorders. Most consultant neurologists have a good knowledge and understanding of example shown in (Fig.1) below may increase diagnostic accuracy.
the common neurological conditions, including movement disorders such as dystonia. However not all provide treatment for all types of dystonia and patients are sometimes referred to tertiary centres, Fig 1. Flow chart for the Hallmark signs: dystonic particularly for the rarer forms of dystonia. Some examples are listed below: diagnosis of torsion dystonia postures and movements (Albanese & Lalli 2009) Diagnosis and treatment by: Activation /deactivation Laryngeal dystonia Laryngologist or ENT (Ear, Nose and Throat) Surgeon features: gestes (tricks), mirroring, overflow Neurologist specialising in movement disorders or an ophthalmologist Oromandibular dystonia Neurologist specialising in movement disorders or an ENT (Ear, Nose and Throat) Surgeon Paediatric movement disorder neurologist or affecting children paediatric neurologist Consultant neurologists work in collaborative networks with specialist nurses, therapists and otherphysicians and surgeons, with the neurologist providing clinical leadership in these teams. This ensures a holistic approach to care. Once the diagnosis has been made, treatment can often more effectively Diagnostic criteria for tortion dystonia are met be provided by other members of the team, leaving the consultant neurologist free to manage themore complex cases.
Other tests can be carried out but may not be routinely used unless diagnosis is proving difficult or in the case of rarer conditions, these may also be used where other members of the family may also be affected. These can include those recommended by Albanese et al 2006 & 2010, for instance: Dystonia can be difficult to diagnose because of its variability in presentation, wide spectrum of causes • Pre-synaptic dopaminergic scan can be useful to differentiate between dopa-responsive and coexistence with other movement disorders. Diagnosis is based on clinical presentation. The core dystonia (DRD) and juvenile Parkinson's disease. This can also be useful to distinguish manifestation is abnormal postures and involuntary muscle spasms (with or without tremor) and the dystonic tremor from parkinsonian tremor.
recognition of specific features eg. ‘geste antagoniste', overflow and mirror movements. It is also a • Appropriate investigations are required if the initial presentation or the course of the case of eliminating other conditions. The classification of dystonia is important for providing appropriate symptoms suggest heredodegenerative or secondary symptomatic dystonia management, prognostic information, genetic counselling and treatment. It is important to be awarethat some psychogenic disorders have symptoms which can appear similar to dystonia and these need • Testing of DYT1 gene in individuals with young onset dystonia can prevent the need to be eliminated. for other more invasive tests. Testing of family members of an index case with DYT1dystonia should only be done with appropriate genetic counselling.
The neurologist will take a detailed history about the onset of symptoms and their impact and carefully observe the patient to see how the dystonia is affecting them. The observation will be done whilst the DYT6 testing can be helpful in early-onset dystonia or familial dystonia with cranio- neurologist is chatting to the patient perhaps gathering other information. For instance: With a possible case of cervical dystonia, the neurologist will be noting how the head Individuals with early-onset myoclonus dystonia affecting the arms, neck or trunk, particularly is held and moved and what muscles are obviously pulling and twisting the neck.
if positive for autosomal-dominant inheritance, may lead to testing for the DYT11 gene.
• Testing for the PNKD gene (DYT8) can be helpful in symptomatic individuals with PNKD.
If checking for blepharospasm, observation will be how and when the eyelids are closing and what is happening with the muscles of the face and eyelids.
Diagnosis of children Structural brain imaging (MRI) is required in generalised or hemidystonia and if there are any features The diagnosis of dystonia in children can be difficult and, as with adults, it is most often a case of to suggest a secondary form of dystonia. However, MRI is not routinely required when there is a eliminating other conditions. For this reason a comprehensive holistic history and assessment of the confident diagnosis of primary focal dystonia in adult patients, as this is almost always a normal study.
child and the family must take place so that an accurate diagnosis can be made. This should usually bedone in a specialist paediatric movement disorder clinic so that the subsequent treatment plan can be Neurophysiological tests are not routinely recommended for the diagnosis or classification of dystonia.
put into effect as soon as possible. Parents should be kept well-informed and supported throughout However, multiple simultaneous electromyography (EMG) recordings from various muscles may this process.
contribute to the clinical assessment by showing characteristic features of dystonia.
DYSTONIA • A GUIDE TO GOOD PRACTICE DYSTONIA • A GUIDE TO GOOD PRACTICE SECTION 3 Diagnosing and treating dystonia SECTION 3 Diagnosing and treating dystonia Giving a diagnosis Many patients receiving a diagnosis will know little if anything about dystonia. Sufficient time Levodopa: A diagnostic levodopa trial is warranted in every patient with early-onset dystonia in should be allowed during the consultation for a careful explanation. The patient's key concerns case they have dopa-responsive dystonia. Following a positive diagnostic trial with levodopa, are likely to be: chronic treatment with levodopa should be initiated and adjusted according to the clinical response.
• What is the condition and what is the likely cause? Anticholinergic agents: The absolute and comparative efficacy and tolerability of anticholinergic agents • What is the prognosis? Will it get better or worse? in dystonia is poorly documented in children and there is no proof of efficacy in adults. Therefore no recommendation can be made to guide prescribing. Is there any immediate medical management available to help relieve my symptoms? Tetrabenazine / benzodiazepines: Frequently used in the treatment of dystonia but documentation What will the longer term management involve? of benefit in well-designed studies is lacking.
• Where will I be treated? Will it be locally or at a larger centre some distance away?• There is a lack of evidence to give recommendations for the use of antiepileptics.
Where can I get more information about dystonia? • Are there sources of support if I need it? • When the diagnosis has sunk in, who can answer any other questions I might have? Pallidal Deep Brain Stimulation (DBS) Considered a good option, particularly for primary generalised or segmental dystonia after medication Before giving the diagnosis, the clinician and his team should therefore prepare for the consultation or botulinum toxin injections have failed to provide adequate improvement. In this procedure, two to ensure that the relevant information and support are available should they be needed. The fine electrodes are inserted into the brain powered by a battery implanted in the chest. The electrodes Dystonia Society can supply relevant leaflets to clinics.
send a pulse that blocks the signals from the brain that cause the involuntary muscle spasms.
3.3 Treatment for adults In general, DBS is less effective in secondary dystonia with the exception of tardive dystonia. DBS canhave side effects and involves a life-long commitment by the patient (and family) as ongoing follow-up Botulinum Toxin injections is required and may necessitate travel to a DBS centre. DBS can be also considered for cervical dystonia In most cases of focal dystonia, the usual treatment is regular botulinum toxin injections into the if other treatments have not worked. affected muscles, usually around every 12 weeks. Botulinum toxin affects the nerves at their junctionwith the muscle. It prevents the release of acetylcholine from the nerve endings and thereby prevents Assessment requires a specialised multi-disciplinary team. Some patients may see DBS as a potential the involuntary muscle contractions.
‘cure' and can be very disappointed if after full assessment they are not thought to be a suitablecandidate. Care must be therefore taken to manage patient expectations, and the conveying of such The frequency can vary for some forms of dystonia at the consultant's clinical discretion. It should a decision must be handled sensitively.
not be used more often than every 8 weeks as there is an increased risk of antibody development. Selective peripheral denervation • Botulinum Toxin (BoNT) A (or type B if there is resistance to type A) can be regarded as first- An alternative approach to treat medically refractory cervical dystonia. There is a significant risk of line treatment for primary cervical dystonia and blepharospasm.
recurrence of symptoms. Insufficient evidence exists to use this treatment in primary dystonia but • BoNT-A can be effective for writer's cramp and is probably effective in other types of upper the procedure can be indicated in patients where secondary dystonia is combined with spasticity.
limb dystonia, but often EMG guided injections are required to pinpoint the overactive muscles.
• BoNT-A is usually effective for adductor-type and abductor-type laryngeal dystonia. However A number of studies have reported motor improvement in patients with writer's cramp and other in mixed or atypical abductor laryngeal dystonia it does not work well or consistently.
forms of focal dystonia following physical treatment and sensory and motor retraining. New randomised controlled studies on these potentially useful interventions for patients with upper limb dystonia may • BoNT injections are relatively safe and efficacious when repeated treatments of recommended provide more evidence.
doses are performed over many years but excessive doses result in increased risk of side effectsat each session. Cumulative doses can result in antibody formation. Doctors should refer to Coping strategies Summaries of Product Characteristics for information on indications and dosing etc.
There are a number of techniques called ‘geste antagoniste' that can be adopted to help manage symptoms. These can include touching the chin to stop the head turning or tilting in cervical dystonia; BoNT injections are usually performed by direct clinical assessment; EMG or ultrasound and touching the temple in blepharospasm to stop the eyelids closing. For some people, symptoms -assisted targeting may improve clinical outcome.
can also be mitigated through focusing on another activity such as talking or playing a musical • BoNT should not be used in patients affected by neuromuscular junction abnormalities or if instrument. It should be noted however that these coping strategies have not been scrutinised in there is local infection at the injection site. The recommended dosage should not be exceeded.
any formal studies. In addition, some people do find the symptoms come back more aggressively when these techniques have been used.
BoNT is not licensed for treatment of dystonia in children (see section 3.4).
DYSTONIA • A GUIDE TO GOOD PRACTICE DYSTONIA • A GUIDE TO GOOD PRACTICE SECTION 3 Diagnosing and treating dystonia SECTION 3 Diagnosing and treating dystonia A note on the use of Cognitive Behavioural Therapy (CBT) • Botulinum toxin A injections in a dystonia treatment plan These are not licensed for children. However, they are often used for management directed People with dystonia who are referred for CBT may be concerned because they believe it to imply at specific muscle groups that interfere with function of the neck, jaw, hands, elbows, hips, that the doctor thinks their dystonia is ‘all in the mind'. Good communication with the patient knees, ankles or feet. Great care must be exercised to avoid botulism through overdosage or is therefore essential so that the patient understands why CBT is being recommended. There is excessively frequent injections. Very disabled children with little or any voluntary movements currently little research evidence about the use of CBT in dystonia, but the principles on which are particularly vulnerable to respiratory difficulties after excessive botulinum toxin A injections.
CBT is based appear to support the theory that it could be helpful in the management of some • Intrathecal baclofen (ITB) cases of dystonia. It may also help associated symptoms such as depression, anxiety, anger, sleep This approach offers regional and total body dystonia control without some of the risks of problems and chronic pain. CBT should be classified as an experimental treatment.
somnolence attendant on oral medication. This will sometimes be used to treat secondary dystonia not amenable to Deep Brain Stimulation.
• Deep Brain Stimulation (DBS) People with dystonia describe the experience of successful treatment This is very effective in primary dystonias. It should be recognised that the longer the Having botulinum toxin injections has allowed me to work duration of dystonia, the greater the risk of skeletal deformities, dependency (through lack and get on with my life.
of opportunity) and potential lowered efficacy of DBS. DBS should be considered when dystonia is rapidly progressive and disabling and when two or more drugs have failed to Botulinum toxin reduces the rapid movement / closure of the bring adequate relief of dystonia or the drugs are poorly tolerated. Loss of a major skill eyelids and tremor in the hands – giving me more control. such as walking, manual ability, speech or feeding are signs that functional neurosurgery should be considered. Unfortunately, many forms of secondary dystonia that are associated Once the deep brain stimulation was correctly tuned, my spasms with focal or generalised brain injury will preclude the use of DBS.
stopped and no longer appear to exist.
Dystonia onset before puberty is particularly disruptive to a child's growth and development. The stress Getting effective treatment felt like someone had put my of dystonia may prevent the onset of puberty. The effect of puberty in a dystonic child may acceleratethe appearance of contracture and deformity which further diminishes function and limits opportunity.
brain back in my head.
Children with primary dystonia may need to be referred to other specialist departments for treatmentfor conditions that result from dystonia (e.g. musculoskeletal and orthopaedic problems). Those with 3.4 Treatment for children secondary dystonia are also very likely to be under the care of different teams at different stages. It isessential that full communication is established and maintained between the neurology / movement Oral medications are often the mainstay for treating dystonia in children and young people. They disorder team and these other specialist teams so that treatment is optimal and appropriate.
may respond well and can tolerate higher doses than adults, but effects may be short-lived or themedication may cause side effects such as somnolence, drooling, poor trunk and neck control and 3.5 Tertiary-based neurology teams difficulties concentrating in class. Mood and behavioural disturbances may further limit the use of drugs. There is no one drug that is the definitive treatment but often a combination of several These are teams who work in specialist centres, often based in teaching hospitals. These centres offer drugs and other treatments can enable effective management. When the cause of dystonia is diagnosis, treatment and monitoring of most types of dystonia. For dystonia, the team has one or unknown and the brain MRI scan is normal, a trial of levodopa is required to diagnose the rare more neurologists specialising in movement disorders, usually supported by a multidisciplinary team genetic disorder known as dopa-responsive dystonia which can be managed for years on small including dystonia nurses. doses of levodopa once or twice a day.
There are also 17 neurosurgical centres in the UK, of which 8 are designated centres offering Deep All dystonia management should be tailored to individual needs of children and goal-directed Brain Stimulation in both adults and children with dystonia. There is currently only one centre offering under the guidance of experienced doctors and therapists. The Multidisciplinary Team (MDT) is Selective Peripheral Denervation for cervical dystonia.
vital to supporting families of children with dystonia and can help create strategies for coping with many essential functions. Some of the management options that may be offered include: 3.6 The role of a dystonia nurse Dystonia nurses are general nurses who have a detailed knowledge and understanding of dystonia and Baclofen* (oral and /or intrathecal) its management. They provide vital continuity of care as they often see the same patient at each visit and their clinic slots are frequently longer than those of a neurologist. Whitaker et al (2001) states that nurse practitioners provide a more flexible, much appreciated, safe and cost-effective service for Dantrolene Sodium this client group. Wider use of outreach nurse practitioners should therefore be encouraged.
* Limited license for use to treat muscle spasms in children DYSTONIA • A GUIDE TO GOOD PRACTICE DYSTONIA • A GUIDE TO GOOD PRACTICE SECTION 3 Diagnosing and treating dystonia SECTION 4 Patient pathway flowcharts Some dystonia nurses are trained to give botulinum toxin injections either in the clinic or as an 4.1 Recommended patient pathway for adults outreach service. Through continuity, they can learn the specifics of each patient's treatment, including how best to site the injections for maximal effect with lowest dose. Dystonia nurses are sometimesalso able to adjust the dose of botulinum toxin within agreed parameters, if necessary seeking advice (adapted from NW Neurosciences Partnership 2006) from the consultant through agreed protocols (Whitaker et al (2001)). Other dystonia nurses providesupport to the consultant in the clinic. They can offer patients counselling and advice either before or Present to GP with movement Referral to movement disorder after treatment, particularly for those who are newly diagnosed or are experiencing side effects from disorder symptoms or specialist or ENT specialist treatments, or when there is an exacerbation of symptoms. problems with voice In centres where DBS (Deep Brain Stimulation) is carried out, patients may be seen by specialist DBSnurses who provide advice, liaise with neurosurgical staff and sometimes make adjustments to the Seen by appropriate movement settings of the implanted neuro-stimulator with guidance from the neurologist. The specialist nurse is disorder or ENT specialist within 18 week wait time also very important in managing an Intrathecal Baclofen (ITB) service in children with secondary dystoniasnot suitable for DBS. The diagram below highlights the roles and responsibilities of the dystonia nurse.
Dystonia nurses may do all or some of these roles depending on the requirements of the service.
Is the underlying cause established Develop treatment multidisciplinary team Symptomatic treatment and / or involvement of multiagency services Focal or regional Widespread generalised Fig 2. The role and responsibilities of a dystonia specialist nurse (adapted from King (2007)) Effective and tolerated? 3.7 Outreach / home visit models Effective and tolerated? Skills for learning Patients living a significant distance from their treatment centre can experience pain and postureproblems during the journey to receive treatment. Outreach services can address this through providing services closer to or in people's homes. They benefit patients as it means only the specialist clinician Continue if needed has to travel a significant distance. Outreach services for dystonia are usually provided by a specialist nurse or sometimes a neurologist.
Consider surgical They are based in local community hospitals and health centres, and occasionally services are delivered Brain Stimulation in the patients' own homes. Referral to these services is usually by one of the neurologists at the maintreatment centre who do the initial assessment and treatment and then refer for treatment locally. Local services can also often offer more time for advice and support. In addition, they providecontinuity of care as usually the same clinician treats the patient each time. Over time, this enables the clinician to adjust the specifics of their treatment to the patient's needs, including how best to site the injections for maximal effect with lowest dose.
DYSTONIA • A GUIDE TO GOOD PRACTICE DYSTONIA • A GUIDE TO GOOD PRACTICE SECTION 4 Patient pathway flowcharts SECTION 4 Patient pathway flowcharts 4.2 Recommended patient pathway children 4.3 Example of specific pathway: and young people with dystonia Walkergate Park Adult Dystonia Patient Pathway (adapted from NW Neurosciences Partnership 2006) Patient presents to Present to GP with movement Referral to a Paediatric GP with dystonic disorder symptoms Diagnosis and cause established Seen by appropriate Paediatric ie. Primary or Secondary dystonia.
Neurologist, Physiotherapist and OT Developmant of treatment plan and GP and and other members of the Referral to Neurology local Multidiciplinary Team notified team within 18 week wait time Out Patients, Walkergate Park – seen within 18 weeks Is the underlying Continue treatment NP / ENT / Neurologist and monitor involve therapy services particularly Physiotherapy, OT, SALT, Psychologist, Child Psychiatrist as required Symptomatic treatment Oral medication, therapy input also consider botulinum ONGOING AND VITAL Regular liaison with young person & family Effective and tolerated? Education, social care and disability employment advisors Continue if needed Consider surgical Brain Stimulation DYSTONIA • A GUIDE TO GOOD PRACTICE DYSTONIA • A GUIDE TO GOOD PRACTICE SECTION 5 Additional support for patients SECTION 5 Additional support for patients As part of a patient's treatment programme for dystonia, the neurological • Some people, particularly children with generalised dystonia, may have difficulty with team will also consider a number of other supplementary treatment options.
swallowing food safely. They may also use more calories as a result of the muscle spasms.
Dystonia can also lead to an inadequate diet: 5.1 Physiotherapy • Those who have excessive movements may also find it almost impossible to keep still whilst For focal dystonias, the use of rehabilitative physiotherapy in treating dystonia is well developed eating making hand to mouth feeding very difficult. As a result, finger foods and feeding and structured. It aims to give patients as much independence as possible, in a palliative way. cups are often used but these may not provide enough nutrition.
The objective of physiotherapy is to correct the affected function through specific interventions. • Texture modified diets (e.g. puree diets) may be recommended due to dysphagia and can This type of therapy is demanding for both the patient and the therapist (Bleton (2007)).
have negative impact on nutritional status due to their poor nutritional content.
In some areas Specialist Neurological Physiotherapists have also been trained to offer regular Nutrition can be monitored using a screening tool (e.g. MUST) during home/clinic visits or inpatient treatment and support for those with dystonia who do not need to be seen by the consultant admissions. A referral to the dietitian should be made if weight loss has occurred or if malnutrition neurologist. This treatment can include Botulinum toxin injections, physical therapy and counselling, is a concern. A dietetic referral is also required when dysphagia is present. The dietitian can suggest support and advice.
appropriate use of texture modified diets, food fortification and nutritional supplement drinks For generalised dystonias, while therapeutic handling strategies can be useful, they tend not to (eg. Build Up™, Complan™, Ensure Plus™ and Fortisip™) to supplement diet.
have carryover (ie. when the therapist releases their handling, the dystonic posture / movement tends to return). Physiotherapists usually have a wider, more supportive role including: 5.4 Speech and language therapy • Supporting patient, parents and carers in other settings (eg. school) about aspects A number of dystonias can affect speech. Where speech difficulties occur referral should be made including handling, positioning, and adapting activities to promote active participation to a speech and language therapist (SALT): • Advising on general and specific exercise to maintain general health and wellbeing or • Patients with spasmodic dysphonia will be given techniques to help them speak. These can to address specific goals such as reducing pain / discomfort, strengthening and range include breathing exercises and ways to make best use of the voice and sound they have.
of movement.
• Those with oromandibular, lingual and generalised dystonias with articulation difficulties • Promoting functional mobility and advising on equipment such as seating, wheelchairs, can be given mouth and swallowing exercises to help them reduce the risk of choking by mobility aids, leisure equipment chewing and swallowing safely.
• Identifying issues which may warrant referral to other services such as Orthopaedics for Within the NHS there are very few SALTs who have experience of dystonia so not everyone who management of contracture and deformity.
may need to see one is referred. However, if a health professional is concerned about a patient'sspeech and swallowing issues they should always seek the advice of a SALT.
5.2 Pain management Pain resulting from dystonia can be in the muscles affected by spasms, or in joints where bone 5.5 Occupational therapy surfaces rub together due to twisting of posture and limbs. Sometimes, the resulting intractable Occupational therapy can help people with dystonia with practical everyday tasks, enabling them to pain can dominate a patient's life and may be unresponsive to medication including that used to live as independently as possible – at home, in employment or in education. Support can include: manage dystonia. These patients need to be referred to a pain specialist urgently to reduce theimpact on health and wellbeing. Although the British Pain Society guidelines (2007) suggest that • Identifying ways problematic everyday tasks can be done differently, including patients should only be referred to pain specialists when all other treatments have failed, it is now recommending alterations or adaptations in the home, school or workplace environment.
recognised that a referral should be offered when indicated by persistent pain causing distress, • Advice on disability equipment and other aids.
disability, and a negative impact on quality of life.
• Assessing the needs of patients who may qualify for a Disabled Facilities Grant towards the cost of adapting their home.
5.3 Dietary support • Referral to other services – for example, speech and language therapy, or employment Adequate nutrition is essential to the wellbeing of children and adults with severe dystonia. -related advice centres.
A number of types of dystonia can affect nutrition: Specialist Neurological OTs actively support and promote best practice in occupational therapy • Dysphagia (difficulty swallowing) can arise from oromandibular and lingual dystonia when for people with neurological conditions.
it can be difficult to chew or move food around the mouth to prepare it for swallowing.
• Dysphagia can also sometimes be a side effect of botulinum toxin injections for cervical dystonia. It is usually a short lived problem but can be frightening when it happens.
DYSTONIA • A GUIDE TO GOOD PRACTICE DYSTONIA • A GUIDE TO GOOD PRACTICE SECTION 5 Additional support for patients SECTION 5 Additional support for patients Specialist equipment • Visual impairment due to blepharospasm: A consultant ophthalmologist should complete The occupational therapist may make recommendations for specialist equipment. In each area, the local an assessment to determine if the patient is sight impaired (SI) or severe sight impaired (SSI) NHS and local authority have a duty to provide certain daily living and mobility equipment including and a certificate issued and sent to Social Services. Advice about visual impairment can be wheelchairs. Provision is based on assessed need and can be for short or long term use. Patients should obtained from the Royal National Institute for the Blind or Action for Blind People.
be discouraged from choosing equipment without being properly assessed as it can result in the • Problems working: Referral to an Occupational Health and /or Disability Employment Advisor.
equipment not helping or causing more problems than it solves. This is particularly the case with • Patient unable to work: Referral to welfare rights officer or Citizens Advice Bureau to mobility aids and wheelchairs if the user has postural problems. The equipment may seem comfortable complete applications for benefits and allowances.
at first but it may encourage fixed postures and muscle tightening, leading to more body deformity.
• Patient rejected for one or more benefits: Appeal decision by sending more information Statutory provision may not cover top-of-the-range bespoke equipment but it should fit the need.
about how the condition affects them (patients are often turned down for benefits due to Where appropriate, children in particular should be given the option of a motorised chair that they ignorance of the condition). can control themselves to help maintain fine motor skills and increase their sense of independence. In certain situations a voucher may be issued (the NHS contribution) towards the equipment which • Access further or higher education: Support from the Disability Advisor or Learning can be topped up with other funds to pay for higher specification equipment. It may also be possible Support Coordinator at the college or university to ensure reasonable adjustments are made.
to apply for financial support towards the cost from charitable funds.
• Patient wishes to continue driving: Neurologist or dystonia nurse to advise if condition stable enough. If so, confirmation to be sent to DVLA.
• Carer struggling or experiencing mental health problems: Referral should be made to Patients with dystonia may experience gait problems and struggle to look after their own feet due carer's support organisation.
to mobility and dexterity issues or to problems caused by uncontrollable muscle spasms. Podiatrists help them address these problems using foot orthotics to assist with gait problems. 5.9 Genetic Counselling Adults who have genetic forms of dystonia and are considering having children may have concerns 5.7 Psychological support about their children developing dystonia. They may decide to seek genetic counselling to help inform Dystonia is not a mental health condition but it can cause severe depression and anxiety due to pain, their decision making. Also where parents have an infant or young child who has dystonia which may stigma, employment difficulties and social isolation. Psychological therapies and counselling can have a genetic cause, they may want to seek genetic counselling with regard to future siblings. If therefore play an important role. This can include helping newly-diagnosed patients to deal with the they choose to have genetic counselling they should seek the advice of their neurologist / paediatric diagnosis, or assisting those already diagnosed to cope with the more stressful aspects of their condition.
neurologist and ask for a referral. There may be a wait and the counselling may not be availablethrough the NHS except in exceptional circumstances.
Where appropriate, a referral can also be to a clinical neuropsychologist who specialises in treatingneurocognitive problems caused by problems with the brain. They bring a psychological viewpoint to 5.10 Complementary therapy treatment, to understand how brain pathology may affect and be affected by psychological factors.
They also can offer an opinion as to whether a person is demonstrating difficulties due to brain People with dystonia often seek out complementary therapies and report varying degrees of benefit pathology or as a consequence of emotional or other (potentially) reversible cause. Neuropsychologists (Lim 2007). These therapies include exercise, acupuncture, chiropractice, massage, homeopathy, yoga, can have an impact on the management of dystonia by ensuring that appropriate treatment is being Chinese medicine, osteopathy, reflexology, shiatsu, aromatherapy and meditation. The Alexander used to manage each problem that may have both a physical and psychological basis. Technique has also been found by some to be helpful. Formal studies into the effects of these therapieshave been limited, so no recommendations can be given. However, therapies which help to increase 5.8 Social support relaxation, relieve stress and calm symptoms are felt by some patients to be useful in managing theircondition (Lim 2007).
Dystonia can cause difficulties with all or some of the activities of daily living. Where this occurs,patients should be referred to social services for support eg. domiciliary care, equipment or home 5.11 Additional support for young people with dystonia adaptations. Social care professionals may not have much knowledge of dystonia or how complex and painful the condition can be. The multi-disciplinary team therefore needs to ensure the responsible Young people may benefit from some or all of the referrals listed above. In addition, they may have social workers are aware the kind of help and support that is necessary. A number of other specific the following additional needs.
social interventions may also be required: DYSTONIA • A GUIDE TO GOOD PRACTICE DYSTONIA • A GUIDE TO GOOD PRACTICE SECTION 5 Additional support for patients SECTION 5 Additional support for patients Special Educational Needs (SENCO) support: The following support may also be appropriate for all types of dystonia: SENCOs in nursery, primary and secondary schools can play a crucial role in the early years by: • Ensuring appropriate educational assessments are carried out Significant level of pain not Referral to pain specialist Pain more effectively managed • Putting an individual education plan in place helped by current medication • Liaising with other specialists (e.g. paediatric occupational therapists) to ensure that suitable Difficulties with gait or Referral to a podiatist Improved gait through foot equipment and other adjustments are provided other foot problems • Training for school staff Psychological issues Referral to a neuropsychologist, Programme such as CBT Pupils with dystonia can be bullied or ostracised. It is essential that this is addressed proactively, through psychologist or counsellor or counselling improves information-sharing, discussions and briefings. The Dystonia Society can provide guidance if necessary.
psychological wellbeing Transition from children's services to adult services Difficulty with all or some of Referral to social services Support to enable coping with the activities of daily living the activities of daily living This is an area of particular concern which requires good planning and handling. Moving a youngperson with dystonia to adult services in health/social care and education can be a fraught process.
Difficulty working Referral to Occupational Health Work arrangements adapted Outcomes can be mixed if best practice guidelines are not followed. The process should start with and / or Disability Employment a referral to education and social care services when the child turns 13 so that the process can begin in a timely way with regular discussion in planning. Transition is a process spanning the period from Assistance from welfare rights In receipt of all appropriate 16-25 years of age. Consideration of the young person's circumstances will determine the precise officer or Citizens Advice Bureau statutory benefits and transition needs, including time-critical educational needs.
to complete applications for benefits and allowances 5.12 Checklists of additional support The following support may be appropriate for specific types of dystonia: Patient turned down Advised to appeal decision In receipt of all appropriate by sending more information statutory benefits and about how the condition Exercises to increase Referral to physiotherapist or maintain range of with expertise in Patient wishes to Neurologist or dystonia nurse Able to continue to drive once to advise if condition stable DVLA and motor insurance enough and if so letter / report company have agreed Referral to dietitian written confirming this for DVLA with expertise in dystonia nutritional status www.dft.gov.uk /dvla / Carer struggling or Referral to carer's organisation Carer receiving necessary support experiencing mental Exercises to help Referral to Speech and Language Therapist (SALT) function /projection with expertise in dystonia Young person having Contact the SENCO at school Able to access education with difficulties with if under 16 or the Disability appropriate support and Referral to: www.rnib.org.uk accessing education Advisor or Learning Support assistance and provision of visual impairment and www.actionforblind Coordinator if 16+ at the equipment and other resources college or university Young person is of the age Referral to education and social Smooth transition to adult Advice about risks Referral to a Genetic Informed decision to move towards adult health, care services when child turns of passing dystonia social and education services 13 so that process can begin in DYSTONIA • A GUIDE TO GOOD PRACTICE DYSTONIA • A GUIDE TO GOOD PRACTICE SECTION 6 Impact of dystonia on other SECTION 6 Impact of dystonia on other Dentists need also to be aware of particular issues relating to patients who have had DBS (Deep Dystonia can affect the treatment provided by other medical professionals.
Brain Stimulation). Diathermy is contra-indicated, and some patients may require prophylactic 6.1 The role of the GP antibiotics to prevent infection. Specialist advice should be sought from the patient's DBS nurse if necessary.
Working alongside multidisciplinary neurological team Ideally treatment for dystonia will be provided by a multi-disciplinary neurological team. In this case, the GP needs to track the progression of the patient's dystonia treatment, usually through clinicletters from the patient's consultant, to ensure that any proposed treatment for other conditions Tardive dystonias can be caused by some anti-psychotic medication. It is therefore likely that many does not conflict with this. people with tardive dystonia will also be under the care of a psychiatrist. For all types of dystonia,care needs to be taken when psychiatric treatment is being planned as some medication can have It is important GPs recognise that not every symptom a dystonia patient presents with is necessarily an impact on existing dystonia. related to the dystonia. There is a danger that delays may occur in diagnosing another perhaps moreserious condition if there is a wait while a referral is being made to the neurologist, or if the patientis advised to bring the new symptom up at their next visit to the neurologist.
To find out more about dystonia, contact the Dystonia Society www.dystonia.org.uk or go to The GP may also be involved in issuing repeat prescriptions for dystonia-related medication, the online learning module devised by the Dystonia Society and British Medical Journal. Enter endorsing patients' applications for welfare benefits, DVLA and blue badge applications etc, in learning.bmj.com in any browser to go to the BMJ website. Once registered, you will find the making referrals to other specialist clinicians or service providers, and in assisting with the transition dystonia module under Neurological problems. The module will help you to understand some of children to adult services.
of the common forms of dystonia and treatments.
Areas where there is no multidisciplinary neurological team In areas where there is no multi-disciplinary team, the GP may be involved directly in supporting the specialist managing the dystonia. In this case, the GP will need to be aware of the additionalreferrals appropriate to best practice in managing dystonia (see section 5).
Radiographers may encounter patients with dystonia when they come in for radiological tests such as x-rays and scans in connection with the dystonia or for some other health issue. These patients may have great difficulty getting into the correct position or keeping still during theprocedure. It is important that the radiographer is sympathetic and talks to the patient and to othersinvolved in their care, ideally in advance of the appointment. They should find out what helps or aggravates their movements and spasms, whether they needsupports to help posture or to alleviate spasms, and whether there is a better time of day to carryout the procedure. Some patients may require sedation to be able to keep still for the procedure.
Dentists need to understand the nature of the condition and how it affects the patient's ability to sitstill and open their mouth. They may need to assist by helping them to find a comfortable positionto reduce muscle spasms during examination and treatment.
Some forms of dystonia, such as oromandibular and lingual dystonia, can cause the lining of themouth and the tongue to become damaged by uncontrolled chewing and biting. This leads toulceration and infection which can be very painful. These forms of dystonia can also make openingthe mouth in a controlled way very difficult and as a result having a dental examination and treatmentis almost impossible. It may require treatment to be provided under sedation or general anaesthetic,with the attendant risks discussed if necessary in advance with relevant medical professionals.
DYSTONIA • A GUIDE TO GOOD PRACTICE DYSTONIA • A GUIDE TO GOOD PRACTICE SECTION 7 The social impact of dystonia SECTION 7 The social impact of dystonia Dystonia has an impact beyond the symptoms and pain observed in medical consultations. A study 7.5 Impact on employment undertaken in 2006 showed that dystonia had a significant impact on health-related quality of lifeincluding deterioration in physical functioning, general health, vitality and social functioning. Also In the Dystonia Society's 2008 survey, 39% of respondents reported that they were not in work. reported by some clients were mental health issues including depression and anxiety (Lim 2007).
Of those in work, 38% said they could only work part of a day while others had to have one or two rests during the day. Some lost their job because it was simply too dangerous for them to continue.
7.1 Isolation and feeling ostracised 7.6 The social impact of dystonia on children In 2008, the Dystonia Society conducted a questionnaire to which 1800 members responded. Findings included: • 75% felt that dystonia had an impact on their social life.
In addition to the difficulties already mentioned, particular challenges faced by children and young people include: • 60% were worried about its impact on their family and friends. • 80% felt very self-conscious about how dystonia makes them look.
• The physical challenge of coping with education while experiencing spasms, pain and Description of the effects of dystonia included: fatigue or side effects from medication. Most are able to attend mainstream education, • Feeling that they ‘just want to hide away from others' because they have been bullied but coping with a full day or carrying heavy bags around can be challenging. and teased by people who do not understand why they move oddly or have strange • Getting adequate support especially in primary and secondary schools. It is often difficult facial expressions.
to get an agreed statement of Special Educational Needs (SEN). Even where a SEN is in • Unable to go out alone because either they are too unsteady or they are simply afraid place, the provision of extra classroom assistance and other services varies widely between to leave the house. Some struggle because of the pain and fatigue caused by dystonia local authorities.
which makes them feel worthless. • Isolation and bullying. Some respondents to our questionnaire report difficulties because • Finding that going into supermarkets and department stores can be quite intimidating other children do not understand their disability or because they are seen as different.
as managers and staff treat them as if they are drunk or up to no-good. They may be watched, followed round or asked to leave because they are upsetting other shoppers.
• Restrictions on leisure activity: Young people report being less active than their friends 7.2 Problems with driving because they lack the physical ability or are simply too tired or are in pain. Some find they have to plan outings carefully so they do not get into awkward situations or get too tired. For people with blepharospasm, being able to continue to drive legally can be a problem. They will • Access to special equipment: Many children and young people report difficulty accessing need to satisfy both their insurance company and the DVLA that they are safe to drive. This can be equipment such as wheelchairs in a timely way. With growing bodies and changing postures, straightforward, but sometimes there are problems because the correct paperwork is not available equipment quickly becomes unsuitable and the assessment process has to be repeated.
to prove that they can keep their eyes open safely while driving. The same situation can apply to • Lack of independence: Young people often have to rely on parents to travel /go out. those with severe cervical dystonia if they are unable to maintain a safe driving position or are unable This issue increases as they get older. to turn their head when manoeuvring.
• Stigma: Young people with dystonia report sometimes being refused service in shops, 7.3 Difficulties with welfare benefits pubs and restaurants because people do not understand the odd movements and think they are drunk.
People with dystonia are often turned down for benefits due to lack of understanding about theconditions by the claims officer making the assessment. It is a significant challenge to explain the impact of dystonia on a complex and rigid benefits application form. It is therefore essential that asmuch information as possible about how dystonia affects that individual is included in the application.
People with dystonia describe their experience of social isolation Most rejections are reversed on appeal but the process often generates significant anxiety.
I found difficulty going out and about. It required determination as 7.4 Difficulties with personal care I experienced lots of insulting behaviour from members of the public.
People with dystonia can sometimes have difficulty with simple daily tasks, such as washing, dressing, I finally made myself go out but then a man started laughing at me eating, drinking and going to the toilet. In addition, inability to keep the mouth, head or tongue about my jerky movements. I went home immediately and didn't go still or the whole body from writhing can create difficulties going to the dentist, optician, podiatrist out again for days.
/chiropodist, hairdresser or beautician. This can on occasion result in neglected dental care, poor footcare, limited vision and poor body image.
DYSTONIA • A GUIDE TO GOOD PRACTICE DYSTONIA • A GUIDE TO GOOD PRACTICE SECTION 7 The social impact of dystonia SECTION 8 References Albanese A, Barnes M P, Bhatia K P, Fernandez-Alvarez E, Lin JP. The contribution of spasticity to the movement 7.7 The impact of dystonia on parents and carers Filippini G, Gasser T, Krausss J K, Newton A, Rektor I, disorder of cerebral palsy using pathway analysis: does Savoiardo M and Valls-Sole (2006) spasticity matter? Dev Med Child Neurol. 2011 Jan; 53(1): In 2009, the Dystonia Society conducted a questionnaire of parents of those with dystonia. A systematic review of the diagnosis and treatment of 7-9. doi: 10.1111 / j.1469-8749.2010.03843.
This showed clearly that the impact on carers of a child or young person with dystonia is primary (idiopathic) dystonia and dystonia plus syndromes: M King (2007) Role of the Specialist Nurse in Warner T T often enormous. Common issues include: report of an EFNS / MDS-ES Task Force. and Bressman S B (ed.) Clinical Diagnosis and Management European Journal of Neurology Vol.13 pp. 433–444.
• Giving up work or being made redundant because they took too much time off of Dystonia. London. Informa Healthcare. Albanese A, Asmus F, Bhatia K P, Elia E A, Elibol B, to care for their child.
McClelland V, Mills K, Siddiqui A, Selway R, Lin JP. Fillipini G, Gasser T, Krauss J K, Nardocci N, A Newton Central motor conduction studies and diagnostic magnetic • Difficulty juggling full-time work with taking their child to frequent hospital and and Valls-Sole J (2010). EFNS guidelines on diagnosis resonance imaging in children with severe primary and and treatment of primary dystonias. European Journal clinic visits, especially when these are far from home.
secondary dystonia. Dev Med Child Neurol. 2011 Aug; of Neurology DOI: 10.1111 / j.1468-1331.2010.03042 53(8):757-763. doi: 10.1111 / j.1469-8749.2011.03981.
• Impossible to have a full family life. Many have had to completely re-adjust their Albanese A and Lalli S (2009) Is this dystonia? family and working life to ensure that their child is properly cared for.
North West Neurosciences Partnership (Position statement Movement Disorders Vol. 24, No. 12 pp. 1725–1731 2006) Recommendations regarding the use of Botulinum • For many parents or carers, these problems were at their worst while trying to Bleton J-P (2007) ‘Role of the Physiotherapist' in Warner Toxin in Adult Patients with Spasticity and Dystonia – get an adequate diagnosis and effective treatment.
T T and Bressman S B (ed.) Clinical Diagnosis and A Report of the North West Botulinum Toxin Subgroup. Management of Dystonia. London. Informa Healthcare 2007.
South West Specialised Commissioning Group Carr L (2009) Consultant Paediatric Neurologist Robert (Consultation document 2008) National Standards for Surtees Memorial Lecture. The Annual Conference of the Designation of Centres for Deep Brain Stimulation.
the Dystonia Society, London, 7 November 2009.
Walkergate Park Centre for Neurorehabilitation and Defazio G (2010) The epidemiology of primary dystonia: Neuropsychiatry (2010). Pathways for diagnosis and current evidence and perspectives. European Journal of management of dystonia. Lesley Kidd, Nurse Manager, Neurology Vol 17 (suppl. 1) pp 9–14.
Neurology Rehabilitation Outpatients. Edwards M, Quinn N and Bhatia K (2008) Warner T T and Bressman S B (ed.) (2007) Clinical Diagnosis Parkinson's Disease and Other Movement Disorders. and Management of Dystonia. London. Informa Healthcare. Oxford Specialist Handbooks in Neurology, Oxford Whitaker J, Butler A, Semlven J and Barnes M P (2001) University Press 2008.
Botulinum toxin for people with dystonia treated by an Great Britain, Department of Health, National Institute for outreach nurse practitioner: A comparative study between Health and Clinical Excellence (2004). Selective peripheral a home and a clinic treatment service. Archives of Physical denervation for cervical dystonia (IPG 80). Medicine and Rehabilitation Vol. 82 Iss.4 pp 480–484.
Great Britain, Department of Health, National Institute for The Dystonia Society (2008) Responses to questionnaire Health and Clinical Excellence (2006) Deep Brain Stimulation for Dystonia Society members. Unpublished report. London.
for tremor and dystonia (excluding Parkinson's disease) The Dystonia Society (2009) Responses to questionnaire for parents / carers of young people with dystonia.
Great Britain, Department of Health (2007) Making It Better: Unpublished report. London.
For Children And Young People. Clinical Case for Change The Dystonia Society (2009) Responses to questionnaire report, Shribman S, National Clinical Director for Children, for young people with dystonia. Unpublished report. London.
Young People and Maternity Services. Lim V K (2007) Health Related Quality of Life in Patients withDystonia and their Caregivers in New Zealand and Australia.
Movement Disorders Vol. 22, No. 7, pp. 998–100.
DYSTONIA • A GUIDE TO GOOD PRACTICE DYSTONIA • A GUIDE TO GOOD PRACTICE SECTION 9 Further sources of information SECTION 10 Acknowledgments The Dystonia Society is grateful to the following Maurice Hawthorne FRCS Consultant ENT who kindly contributed to this report: Surgeon, Botulinum toxin clinics – James Cook The Dystonia Society's website.
University Hospital, Walkergate Park Hospital Diane Ashton Dystonia Nurse Practitioner, Salford Royal NHS Foundation Trust, Salford, Manchester Robert Hinds Welfare Rights Officer, Access to the British Medical Journal's online dystonia learning Social Work Services, Glasgow City Council module produced in association with The Dystonia Society.
Tabby Boydell Directorate Manager, OutpatientServices, Mid Staffordshire NHS Foundation Trust Dr Carole Joint Movement Disorder Nurse Specialist, Department of Neurosciences, Dr Lucinda Carr Consultant Paediatric Neurologist, Dystonia Medical Research Foundation website.
John Radcliffe Hospital, Oxford Great Ormond Street Hospital, London Lesley Kidd Nurse Manager, Neurology Dr Chris Clough Consultant Neurologist, King's ‘Dystonias' E A Moberg-Wolff, A R Thiyagarajah and S A Barna Rehabilitation Outpatients, Walkergate Park College Hospital, London, and Neurology Advisor 13th January 2010.
Centre for Neurorehabilitation and Neuro- to Department of Health psychiatry, Newcastle upon Tyne Complex Motor Disorders Team at Evelina Dr Jean-Pierre Lin Consultant Paediatric Neurologist, Government website for access to information about welfare Childrens Hospital, St Thomas's Hospital, London Evelina Children's Hospital, benefits and disability rights including access to education.
Dystonia Society Professional Forums 2007–2009 St Thomas's Hospital, London held in Liverpool, Taunton, Haywards Heath, Dr Peter Moore Consultant Neurologist and The website of the Citizens Advice Bureau who can help Nottingham, Birmingham and Belfast.
Hon Senior Lecturer in Neurology, The Walton with getting benefits and advice.
Elizabeth Edmonds Dystonia Nurse Specialist, Centre for Neurology & Neurosurgery, Liverpool Old Harold Wood Hospital Site, Disablement Service Responders to Dystonia Society members' Centre/Long Term Conditions, Harold Wood, Essex The website of the Disability Information Advice Lines which questionnaires, 2008 and 2009 can help you to access information in your area about benefits Dr Mark Edwards NIHR Clinician Scientist, Kylee Tustin Clinical Specialist Physiotherapist, and other support.
Sobell Department, Institute of Neurology, Complex Motor Disorders Service, Evelina Children's University College Hospital, London Hospital, St Thomas's Hospital, London Dr Ruth Epstein Consultant Speech and Language The website of the Royal National Institute of Blind which Dr Tom Warner Consultant Neurologist and Reader Therapist (ENT), Head of Speech and Language can help with registering as sight impaired.
in Clinical Sciences, Royal Free Hospital, London Therapy services, Royal National Throat, Nose and Ear Hospital, London Professor Renata Whurr Speech and Language A useful website for those with a visual impairment.
Therapist, Institute of Cognitive Neuroscience, Alexina Fantato Research Sister, The Oxford Eye University College Hospital, London Hospital, John Radcliffe Hospital, Oxford www.dft.gov.uk /dvla / Helen Wilkinson Clinical Specialist Physiotherapist / The website of the Driver Vehicle and Licensing Agency for Dr Linda Fisher Lead CBT Therapist, Department Team leader, Musgrove Park Hospital, Taunton. information about driving with a medical condition.
of Neuropsychiatry, The National Hospital forNeurology and Neurosurgery, London Suzanne Yates Senior Specialist Neuroscience Dietitian, The National Hospital for Neurology The website of the MedicAlert Foundation which provides Dr Nick Fletcher Clinical Director, The Walton and Neurosurgery, London necklets and bracelets for people with medical conditions.
Centre for Neurology & Neurosurgery, Liverpool With support from the following organisations: Hortensia Gimeno Senior Paediatric Occupational Therapist, Complex Motor Disorders team, Ipsen Limited 190 Bath Road, Slough, SL1 3XE A useful website for carers of those with a disability.
Assessment and Management Service, Evelina Medtronic Limited Building 9, Croxley Green Bus.
Childrens Hospital, St Thomas's Hospital, London Dystonia Society Helpline: 0845 458 6322 Park, Hatters Lane, Watford, Herts WD18 8WW Sharyn Griffith Social Worker, Children's Disability This report was researched and compiled by Team, Northern Health and Social Care Trust, Val Wells, Service Development Manager for Coleraine, Northern Ireland The Dystonia Society.
DYSTONIA • A GUIDE TO GOOD PRACTICE DYSTONIA • A GUIDE TO GOOD PRACTICE SECTION 11 About The Dystonia Society The Dystonia Society exists to promote the welfare ofpeople who are affected by any form of the neurologicalmovement disorder known as dystonia. The Society aims todo this by promoting awareness of the disorder, bysupporting research and by undertaking welfare initiatives.
It does this on a national level and through its network of The Society is a charity and was established in 1983 by a small group of people affected by dystonia,with the support of the late Professor David Marsden. It has since grown significantly in size andambition. Those on its Board of Trustees are elected by the membership of the charity and the Societyhas a dedicated staff team to carry out the day to day work of the organisation. The Society also hasthree patrons and a Royal patron who provide invaluable support. It receives little government fundingand relies almost entirely on voluntary donations to fund its services.
The organisation currently has four principal areas of focus: 1. Improving access to treatment services 2. Providing improved support and information for individuals affected by dystonia 3. Progressing research activities 4. Raising awareness of the condition Among its many activities, the Society runs a busy helpline and website, organises ‘Living with Dystonia'days around the UK, and works proactively with government departments and health commissioners to improve services for those with dystonia. It funds research into dystonia, and its conferences attractleading clinical speakers and members from all over the country. The Society has forged links with many senior neurologists and movement disorder specialists in the UK, and with dystonia organisations in Europe and the United States. It is a leading member of theEuropean Dystonia Federation.
The Dystonia Society 2nd Floor 89 Albert EmbankmentLondon SE1 7TP Office: 0845 458 6211Email enquiries: [email protected]: www.dystonia.org.ukHelpline: 0845 458 6322Email helpline: [email protected] Registered Charity No. 1062595 and SC042127 Company limited by guarantee No. 3309777 Medical advisor: Dr Tom Warner PhD, MRCP DYSTONIA • A GUIDE TO GOOD PRACTICE DYSTONIA • A GUIDE TO GOOD PRACTICE DYSTONIA • A GUIDE TO GOOD PRACTICE

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