|Classification and external resources|
A person with medication induced dystonia.
|OMIM||128100 224500 314250 128101 128230 602629 602124 118800 601042 128200 159900 128235 607671 607488 612067 612406 612126 611031 611147|
Dystonia is a neurological movement disorder, in which sustained muscle contractions cause twisting and repetitive movements or abnormal postures. The disorder may be hereditary or caused by other factors such as birth-related or other physical trauma, infection, poisoning (e.g., lead poisoning) or reaction to pharmaceutical drugs, particularly neuroleptics. Treatment is difficult and has been limited to minimizing the symptoms of the disorder, since there is no cure available.
Types of dystonia 
Generalized dystonias 
- Normal birth history and milestones
- Autosomal dominant
- Childhood onset
- Starts in lower limbs and spreads upwards
- Also known as "idiopathic torsion dystonia" (old terminology "dystonia musculorum deformans")
Focal dystonias 
These are the most common dystonias and tend to be classified as follows:
|Anismus||muscles of the rectum||Causes painful defecation, constipation; may be complicated by encopresis.|
|Cervical dystonia (spasmodic torticollis)||muscles of the neck||Causes the head to rotate to one side, to pull down towards the chest, or back, or a combination of these postures.|
|Blepharospasm||muscles around the eyes||The sufferer experiences rapid blinking of the eyes or even their forced closure causing functional blindness.|
|Oculogyric crisis||muscles of eyes and head||An extreme and sustained (usually) upward deviation of the eyes often with convergence causing diplopia(double vision). It is frequently associated with backwards and lateral flexion of the neck and either widely opened mouth or jaw clenching. Frequently a result of antiemetics such as the neuroleptics (e.g., prochlorperazine) or metoclopramide. Also can be caused by Chlorpromazine|
|Oromandibular dystonia||muscles of the jaw and muscles of tongue||Causes distortions of the mouth and tongue.|
|Spasmodic dysphonia/Laryngeal dystonia||muscles of larynx||Causes the voice to sound broken, become hoarse, sometimes reducing it to a whisper.|
|Focal hand dystonia (also known as musician's or writer's cramp).||single muscle or small group of muscles in the hand||It interferes with activities such as writing or playing a musical instrument by causing involuntary muscular contractions. The condition is sometimes "task-specific," meaning that it is generally apparent during only certain activities. Focal hand dystonia is neurological in origin, and is not due to normal fatigue. The loss of precise muscle control and continuous unintentional movement results in painful cramping and abnormal positioning that makes continued use of the affected body parts impossible.|
Segmental dystonias 
Segmental dystonias affect two adjoining parts of the body:
- Hemidystonia affects an arm and foot on one side of the body.
- Multifocal dystonia affects many different parts of the body.
- Generalized dystonia affects most of the body, frequently involving the legs and back.
Genetic / primary 
|DYT1||128100||TOR1A||9q34||Early-onset torsion dystonia|
|DYT2||224500||unknown||unknown||Autosomal recessive torsion dystonia|
|DYT4||128101||TUBB4||19p13.12-13||Autosomal dominant whispering dysphonia|
|DYT5a||128230||GCH1||14q22.1-q22.2||Autosomal dominant dopamine-responsive dystonia|
|DYT5b||191290||TH||11p15.5||Autosomal recessive dopamine-responsive dystonia|
|DYT6||602629||THAP1||8p11.21||Autosomal dominant dystonia with cranio-cervical predilection|
|DYT7||602124||unknown||18p (questionable)||Autosomal dominant primary focal cervical dystonia|
|DYT8||118800||MR1||2q35||Paroxysmal nonkinesigenic dyskinesia|
|DYT9||601042||SLC2A1||1p35-p31.3||Episodic choreoathetosis/spasticity (now known to be synonymous with DYT18)|
|DYT10||128200||PRRT2||16p11.2-q12.1||Paroxysmal kinesigenic dyskinesia|
|DYT12||128235||ATP1A3||19q12-q13.2||Rapid onset dystonia parkinsonism and alternating hemiplegia of childhood|
|DYT13||607671||unknown, near D1S2667||1p36.32-p36.13||Autosomal dominant cranio-cervical/upper limb dystonia in one Italian family|
|DYT15||607488||unknown||18p11||Myoclonic dystonia not linked to SGCE mutations|
|DYT16||612067||PRKRA||2q31.3||Autosomal recessive young onset dystonia parkinsonism|
|DYT17||612406||unknown, near D20S107||20p11.2-q13.12||Autosomal recessive dystonia in one family|
|DYT18||612126||SLC2A1||1p35-p31.3||Paroxysmal exercise-induced dyskinesia|
|DYT19||611031||probably PRRT2||16q13-q22.1||Episodic kinesigenic dyskinesia 2, probably synonymous with DYT10|
|DYT20||611147||unknown||2q31||Paroxysmal nonkinesigenic dyskinesia 2|
|DYT21||614588||unknown||2q14.3-q21.3||Late-onset torsion dystonia|
|DYT23||610110||ANO3||11p14.2||Autosomal dominant cranio-cervical dystonia with prominent tremor|
There is a group called myoclonus dystonia or myoclonic dystonia, where some cases are hereditary and have been associated with a missense mutation in the dopamine-D2 receptor. Some of these cases have responded remarkably to alcohol.
Signs and symptoms 
Symptoms vary according to the kind of dystonia involved. In most cases, dystonia tends to lead to abnormal posturing, particularly on movement. Many sufferers have continuous pain, cramping and relentless muscle spasms due to involuntary muscle movements. Other motor symptoms are possible including lip smacking.
Early symptoms may include loss of precision muscle coordination (sometimes first manifested in declining penmanship, frequent small injuries to the hands, and dropped items), cramping pain with sustained use and trembling. Significant muscle pain and cramping may result from very minor exertions like holding a book and turning pages. It may become difficult to find a comfortable position for arms and legs with even the minor exertions associated with holding arms crossed causing significant pain similar to restless leg syndrome. Affected persons may notice trembling in the diaphragm while breathing, or the need to place hands in pockets, under legs while sitting or under pillows while sleeping to keep them still and to reduce pain. Trembling in the jaw may be felt and heard while lying down, and the constant movement to avoid pain may result in the grinding and wearing down of teeth, or symptoms similar to TMD. The voice may crack frequently or become harsh, triggering frequent throat clearing. Swallowing can become difficult and accompanied by painful cramping.
Electrical sensors (EMG) inserted into affected muscle groups, while painful, can provide a definitive diagnosis by showing pulsating nerve signals being transmitted to the muscles even when they are at rest. The brain appears to signal portions of fibers within the affected muscle groups at a firing speed of about 10 Hz causing them to pulsate, tremble and contort. When called upon to perform an intentional activity, the muscles fatigue very quickly and some portions of the muscle groups do not respond (causing weakness) while other portions over-respond or become rigid (causing micro-tears under load). The symptoms worsen significantly with use, especially in the case of focal dystonia, and a "mirror effect" is often observed in other body parts: use of the right hand may cause pain and cramping in that hand as well as in the other hand and legs that were not being used. Stress, anxiety, lack of sleep, sustained use and cold temperatures can worsen symptoms.
Direct symptoms may be accompanied by secondary effects of the continuous muscle and brain activity, including disturbed sleep patterns, exhaustion, mood swings, mental stress, difficulty concentrating, blurred vision, digestive problems and short temper. People with dystonia may also become depressed and find great difficulty adapting their activities and livelihood to a progressing disability. Side effects from treatment and medications can also present challenges in normal activities.
In some cases, symptoms may progress and then plateau for years, or stop progressing entirely. The progression may be delayed by treatment or adaptive lifestyle changes, while forced continued use may make symptoms progress more rapidly. In others, the symptoms may progress to total disability, making some of the more risky forms of treatment worth considering. In some cases with patients who already have dystonia, a subsequent tramatic injury or the effects of general anethesia during an unrelated surgery can cause the symptoms to progress rapidly.
An accurate diagnosis may be difficult because of the way the disorder manifests itself. Sufferers may be diagnosed as having similar and perhaps related disorders including Parkinson's disease, essential tremor, carpal tunnel syndrome, TMD, Tourette's syndrome, conversion disorder or other neuromuscular movement disorders. It has been found that the prevalence of dystonia is high in individuals with Huntington's disease, where the most common clinical presentations are internal shoulder rotation, sustained fist clenching, knee flexion, and foot inversion. Risk factors for increased dystonia in patients with Huntington's disease include long disease duration and use of antidopaminergic medication.
The causes of dystonia are not yet known or understood; however, they are categorized as follows on a theoretical basis:
Primary dystonia is suspected to be caused by a pathology of the central nervous system, likely originating in those parts of the brain concerned with motor function, such as the basal ganglia, and the GABA (gamma-aminobutyric acid) producing Purkinje neurons. The precise cause of primary dystonia is unknown. In many cases it may involve some genetic predisposition towards the disorder combined with environmental conditions.
Secondary dystonia refers to dystonia brought on by some identified cause, usually involving brain damage, or by some unidentified cause such as chemical imbalance. Some cases of (particularly focal) dystonia are brought on after trauma, are induced by certain drugs (tardive dystonia), or may be the result of diseases of the nervous system such as Wilson's disease.
Environmental and task-related factors are suspected to trigger the development of focal dystonias because they appear disproportionately in individuals who perform high precision hand movements such as musicians, engineers, architects and artists. Chlorpromazine can also cause dystonia, which can be often misjudged as a seizure. Neuroleptic drugs often cause dystonia, including oculogyric crisis.
Treatment has been limited to minimizing the symptoms of the disorder as there is yet no successful treatment for its cause. Reducing the types of movements that trigger or worsen dystonic symptoms provides some relief, as does reducing stress, getting plenty of rest, moderate exercise, and relaxation techniques. Various treatments focus on sedating brain functions or blocking nerve communications with the muscles via drugs, neuro-suppression or denervation. All current treatments have negative side effects and risks. In some cases, botox is used.
Physical intervention 
While research in the area of effectiveness of physical therapy intervention for dystonia remains weak, there is reason to believe that rehabilitation will benefit patients with dystonia. Physical therapy can be utilized to manage changes in balance, mobility and overall function that occur as a result of the disorder. A variety of treatment strategies can be employed to address the unique needs of each individual. Potential treatment interventions include splinting, therapeutic exercise, manual stretching, soft tissue and joint mobilization, postural training and bracing, neuromuscular electrical stimulation, constraint-induced movement therapy, activity and environmental modification, and gait training.
Recent research has investigated further into the role of physiotherapy in the treatment of dystonia. A recent study showed that reducing psychological stress, in conjunction with exercise, is beneficial for reducing truncal dystonia in patients with Parkinson’s Disease. Another study emphasized progressive relaxation, isometric muscle endurance, dynamic strength, coordination, balance, and body perception, seeing significant improvements to patients’ quality of life after 4-weeks.
Some focal dystonias have been proven treatable through movement retraining in the Taubman approach, particularly in the case of musicians. However other focal dystonias may not respond and may even be made worse by this treatment.
Due to the rare and variable nature of dystonia, research investigating the effectiveness of these treatments is limited. There is no gold standard for physiotherapy rehabilitation. To date, focal cervical dystonia has received the most research attention; however, study designs are poorly controlled and limited to small sample sizes.
Different medications are tried in an effort to find a combination that is effective for a specific person. Not all people will respond well to the same medications. Medications that have had positive results in some include: diphenhydramine, benzatropine, anti-Parkinsons agents ( such as trihexyphenidyl), and muscle relaxers (such as diazepam).
Medications such as anticholinergics (benztropine), which act as inhibitors of the neurotransmitter acetylcholine, may provide some relief. In the case of an acute dystonic reaction, diphenhydramine is sometimes used (though this drug is well known as an antihistamine, in this context it is being used primarily for its anticholinergic role). In the case of Oculogyric crisis, diphenhydramine may be administered with excellent results with symptoms subsiding in a matter of minutes.
- Muscle relaxants
Clonazepam, an anti-seizure medicine, is also sometimes prescribed. However, for most their effects are limited and side effects like mental confusion, sedation, mood swings and short-term memory loss occur.
Botulinum toxin injections into affected muscles have proved quite successful in providing some relief for around 3–6 months, depending on the kind of dystonia. Botox injections have the advantage of ready availability (the same form is used for cosmetic surgery) and the effects are not permanent. There is a risk of temporary paralysis of the muscles being injected or the leaking of the toxin into adjacent muscle groups causing weakness or paralysis in them. The injections have to be repeated as the effects wear off and around 15% of recipients will develop immunity to the toxin. There is a Type A and Type B toxin approved for treatment of dystonia; often those that develop resistance to Type A may be able to use Type B.
- Parkinsonian drugs
Dopamine agonists: One type of dystonia, dopamine-responsive dystonia, can be completely treated with regular doses of L-DOPA in a form such as Sinemet (carbidopa/levodopa). Although this doesn't remove the condition, it does alleviate the symptoms most of the time. (In contrast, dopamine antagonists can sometimes cause dystonia.)
A baclofen pump has been used to treat patients of all ages exhibiting muscle spasticity along with dystonia. The pump delivers baclofen via a catheter to the thecal space surrounding the spinal cord. The pump itself is placed in the abdomen. It can be refilled periodically by access through the skin.
Surgery, such as the denervation of selected muscles, may also provide some relief; however, the destruction of nerves in the limbs or brain is not reversible and should only be considered in the most extreme cases. Recently, the procedure of deep brain stimulation (DBS) has proven successful in a number of cases of severe generalised dystonia. DBS as treatment for medication-refractory dystonia, on the other hand, may increase the risk of suicide in patients. Unfortunately, reference data of patients without DBS therapy are lacking.
See also 
- Dystonia fact sheet: National Institute of Neurological Disorders and Stroke
- Hersheson, Joshua; et al. (2013). "Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia". Annals of Neurology (Accepted articles). doi:10.1002/ana.23832.
- Valente EM, Bentivoglio AR, Cassetta E, et al. (March 2001). "DYT13, a novel primary torsion dystonia locus, maps to chromosome 1p36.13—36.32 in an Italian family with cranial-cervical or upper limb onset". Ann. Neurol. 49 (3): 362–6. doi:10.1002/ana.73. PMID 11261511.
- Grimes DA, Han F, Lang AE, St George-Hyssop P, Racacho L, Bulman DE (October 2002). "A novel locus for inherited myoclonus-dystonia on 18p11". Neurology 59 (8): 1183–6. PMID 12391345.
- Chouery E, Kfoury J, Delague V, et al. (October 2008). "A novel locus for autosomal recessive primary torsion dystonia (DYT17) maps to 20p11.22-q13.12". Neurogenetics 9 (4): 287–93. doi:10.1007/s10048-008-0142-4. PMID 18688663.
- Charlesworth, G.; et al. (2012). "Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis.". American Journal of Human Genetics 91 (6): 1041–50. doi:10.1016/j.ajhg.2012.10.024.
- Cassim F (Oct 2003). "[Myoclonic dystonia]" [Myoclonic dystonia]. Rev Neurol. (Paris) (in French) 159 (10 Pt 1): 892–9. PMID 14615678.
- Vidailhet M, Tassin J, Durif F, et al. (May 2001). "A major locus for several phenotypes of myoclonus—dystonia on chromosome 7q". Neurology 56 (9): 1213–6. PMID 11342690.
- Burda A, Webster K, Leikin JB, Chan SB, Stokes KA (October 1999). "Nefazadone-induced acute dystonic reaction". Vet Hum Toxicol 41 (5): 321–2. PMID 10509438.
- Louis ED, Lee P, Quinn L, Marder K (January 1999). "Dystonia in Huntington's disease: prevalence and clinical characteristics". Mov. Disord. 14 (1): 95–101. PMID 9918350.
- Crowner, Beth (November 2007). "Cervical Dystonia: Disease Profile and Clinical Management". Physical Therapy 87 (11): 1511–26. doi:10.2522/ptj.20060272. PMID 17878433.
- Lubarr N, Bressman S (June 2011). "Treatment of generalized dystonia". Curr Treat Options Neurol 13 (3): 274–89. doi:10.1007/s11940-011-0122-0. PMID 21455718.
- Myers, K.J.; Bour, B. (2009). "The Role of Physical Therapy in the Management of Dystonia". In Okun, M.S. The Dystonia Patient: A Guide to Practical Management. New York: Demos Medical. pp. 117–148.
- Priori A, Pesenti A, Cappellari A, Scarlato G, Barbieri S (August 2001). "Limb immobilization for the treatment of focal occupational dystonia". Neurology 57 (3): 405–9. PMID 11502904.
- Kawamichi, K; Taichi, H., Oriel, I., Mineta, T., Sawada, Y., et al. (2011). "Effect of Rehabilitation on Parkinson's Disease with Truncal Dystonia" (PDF). Journal of Tokushima 2: 47–50. Retrieved May 6, 2012.
- Zetterberg L, Halvorsen K, Färnstrand C, Aquilonius SM, Lindmark B (2008). "Physiotherapy in cervical dystonia: six experimental single-case studies". Physiother Theory Pract 24 (4): 275–90. doi:10.1080/09593980701884816. PMID 18574753.
- Brin MF, Lew MF, Adler CH, Comella CL, Factor SA, Jankovic J, O'Brien C, Murray JJ, Wallace JD, Willmer-Hulme A, Koller M (1999). "Safety and efficacy of NeuroBloc (botulinum toxin type B) in type A-resistant cervical dystonia". Neurology 53 (7): 1431–8. PMID 10534247.
- Jankovic, Dr. Joseph; Dr. Eduardo Tolosa (2007). Parkinson's Disease & Movement Disorders (5th ed.). Philadelphia, Penn.: Lippincott Williams & Wilkins. pp. 349–350. ISBN 0-7817-7881-6.
- Snider, SR; Consroe P (1985). "Beneficial and adverse effects of cannabidiol in a Parkinson patient with sinemet-induced dystonic dyskinesia". Neurology 35: 201.
- Bittar RG, Yianni J, Wang S, Liu X, Nandi D, Joint C, Scott R, Bain PG, Gregory R, Stein J, Aziz TZ (2005). "Deep brain stimulation for generalised dystonia and spasmodic torticollis". J Clin Neurosci 12 (1): 12–6. doi:10.1016/j.jocn.2004.03.025. PMID 15639404.
- Foncke EM, Schuurman PR, Speelman JD (January 2006). "Suicide after deep brain stimulation of the internal globus pallidus for dystonia". Neurology 66 (1): 142–3. doi:10.1212/01.wnl.0000191328.05752.e2. PMID 16401868.
- GeneReview/NIH/UW entry on Dystonia Overview
- GeneReviews/NCBI/NIH/UW entry on Early-Onset Primary Dystonia
- Film on Dystonia from Public Broadcasting Service
- A story of one woman's struggle with dystonia at MSNBC.com
- Care4Dystonia Newsletters, Library and Education Forum on Dystonia
- Down on the Pharm': All About Acute Dystonic Reaction