Dystonia

Dystonia is a neurological hyperkinetic movement disorder in which sustained or repetitive muscle contractions occur involuntarily, resulting in twisting and repetitive movements or abnormal fixed postures.[1] The movements may resemble a tremor. Dystonia is often intensified or exacerbated by physical activity, and symptoms may progress into adjacent muscles.[2]

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,[1] or stress. Treatment must be highly customized to the needs of the individual and may include oral medications, chemodenervation botulinum neurotoxin injections, physical therapy, or other supportive therapies, and surgical procedures such as deep brain stimulation.

## Contents

* 1 Classification
* 1.1 Focal dystonias
* 1.2 Genetic/primary
* 2 Signs and symptoms
* 3 Causes
* 4 Treatment
* 4.1 Physical intervention
* 4.1.1 Baclofen
* 4.1.2 Botulinum toxin injection
* 4.1.3 Muscle relaxants
* 4.1.4 Ketogenic diet
* 4.2 Surgery
* 4.3 Non-invasive MRgFUS treatment
* 5 Epidemiology
* 6 History
* 7 See also
* 8 References
* 9 External links

## Classification

Template:Layout There are multiple types of dystonia, and many diseases and conditions may cause dystonia. Dystonia is classified by clinical characteristics such as age of onset, body distribution, nature of the symptoms, and associated features such as additional movement disorders or neurological symptoms. It is also classified by cause, which includes changes or damage to the nervous system and inheritance.[2] Types include generalized dystonia, focal dystonia, psychogenic dystonia, acute dystonic reaction,[3] and vegetative-vascular dystonia.

Following the 2013 consensus update, dystonia is now primarily classified as "isolated" when it is the sole neurological sign or "combined" when it appears alongside other features like Parkinson’s. While service-based estimates are lower, rigorous population research suggests a prevalence as high as 732 per 100,000 individuals for adult-onset focal dystonia, indicating that a significant portion of the affected population remains undiagnosed. Notably, psychiatric comorbidities like anxiety and depression are recognized as the most important determinants of a patient's quality of life, often impacting daily function more significantly than the physical severity of the involuntary motor movements.[4]

### Focal dystonias

These most common dystonias are typically classified as follows:

Name  | Location  | Description

|
|

Anismus | muscles of the rectum | Causes painful defecation, constipation; may be complicated by encopresis or fecal incontinence.
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 patient 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 backward 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. 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.

The combination of blepharospasmodic contractions and oromandibular dystonia is called cranial dystonia or Meige's syndrome.

### Genetic/primary

Symbol  | OMIM  | Gene  | Locus  | Alt Name

|
|
|
|

DYT1  | Online Mendelian Inheritance in Man (OMIM) 128100 | TOR1A | 9q34  | Early-onset torsion dystonia
DYT2  | Online Mendelian Inheritance in Man (OMIM) 224500 | HPCA  | 1p35-p34.2  | Autosomal recessive primary isolated dystonia
DYT3  | Online Mendelian Inheritance in Man (OMIM) 314250 | TAF1  | Xq13  | X-linked dystonia parkinsonism
DYT4  | Online Mendelian Inheritance in Man (OMIM) 128101 | TUBB4[5] | 19p13.12-13  | Autosomal dominant whispering dysphonia
DYT5a  | Online Mendelian Inheritance in Man (OMIM) 128230 | GCH1  | 14q22.1-q22.2  | Autosomal dominant dopamine-responsive dystonia
DYT5b  | Online Mendelian Inheritance in Man (OMIM) 191290 | TH | 11p15.5  | Autosomal recessive dopamine-responsive dystonia
DYT6  | Online Mendelian Inheritance in Man (OMIM) 602629 | THAP1 | 8p11.21  | Autosomal dominant dystonia with cranio-cervical predilection
DYT7  | Online Mendelian Inheritance in Man (OMIM) 602124 | unknown  | 18p (questionable)  | Autosomal dominant primary focal cervical dystonia
DYT8  | Online Mendelian Inheritance in Man (OMIM) 118800 | MR1 | 2q35  | Paroxysmal nonkinesigenic dyskinesia
DYT9  | Online Mendelian Inheritance in Man (OMIM) 601042 | SLC2A1  | 1p35-p31.3  | Episodic choreoathetosis/spasticity (now known to be synonymous with DYT18)
DYT10  | Online Mendelian Inheritance in Man (OMIM) 128200 | PRRT2 | 16p11.2-q12.1  | Paroxysmal kinesigenic dyskinesia
DYT11  | Online Mendelian Inheritance in Man (OMIM) 159900 | SGCE  | 7q21  | Myoclonic dystonia
DYT12  | Online Mendelian Inheritance in Man (OMIM) 128235 | ATP1A3 | 19q12-q13.2  | Rapid-onset dystonia parkinsonism and alternating hemiplegia of childhood
DYT13  | Online Mendelian Inheritance in Man (OMIM) 607671 | unknown, near D1S2667[6] | 1p36.32-p36.13  | Autosomal dominant cranio-cervical/upper limb dystonia in one Italian family
DYT14  | See DYT5  |  |  |
DYT15  | Online Mendelian Inheritance in Man (OMIM) 607488 | unknown  | 18p11[7] | Myoclonic dystonia not linked to SGCE mutations
DYT16  | Online Mendelian Inheritance in Man (OMIM) 612067 | PRKRA  | 2q31.3  | Autosomal recessive young onset dystonia parkinsonism
DYT17  | Online Mendelian Inheritance in Man (OMIM) 612406 | unknown, near D20S107[8] | 20p11.2-q13.12  | Autosomal recessive dystonia in one family
DYT18  | Online Mendelian Inheritance in Man (OMIM) 612126 | SLC2A1  | 1p35-p31.3  | Paroxysmal exercise-induced dyskinesia
DYT19  | Online Mendelian Inheritance in Man (OMIM) 611031 | probably PRRT2 | 16q13-q22.1  | Episodic kinesigenic dyskinesia 2, probably synonymous with DYT10
DYT20  | Online Mendelian Inheritance in Man (OMIM) 611147 | unknown  | 2q31  | Paroxysmal nonkinesigenic dyskinesia 2
DYT21  | Online Mendelian Inheritance in Man (OMIM) 614588 | unknown  | 2q14.3-q21.3  | Late-onset torsion dystonia
DYT24  | Online Mendelian Inheritance in Man (OMIM) 610110 | 11p14.2  | Autosomal dominant cranio-cervical dystonia with prominent tremor

There is a group called 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 well to alcohol.[9][10]

Other genes that have been associated with dystonia include CIZ1, GNAL, ATP1A3, and PRRT2.[11] Another report has linked THAP1 and SLC20A2 to dystonia.[12]

## Signs and symptoms

File:Hemichorea and dystonia.ogv Symptoms vary according to the kind of dystonia involved. In most cases, dystonia tends to lead to abnormal posturing, in particular on movement. Many individuals with the condition have continuous pain, cramping, and relentless muscle spasms due to involuntary muscle movements. Other motor symptoms are possible including lip smacking.[13]

An accurate diagnosis may be difficult because of the way the disorder manifests itself. Affected individuals may be diagnosed as having similar and perhaps related disorders including Parkinson's disease, essential tremor, carpal tunnel syndrome, temporomandibular joint disorder, 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.[14] Risk factors for increased dystonia in patients with Huntington's disease include long disease duration and use of antidopaminergic medication.[14]

## Causes

Primary dystonia is suspected when the dystonia is the only sign and there is no identifiable cause or structural abnormality in the central nervous system. Researchers suspect it is 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.[15]

Meningitis and encephalitis caused by viral, bacterial, and fungal infections of the brain have been associated with dystonia. The main mechanism is inflammation of the blood vessels, causing restriction of blood flow to the basal ganglia. Other mechanisms include direct nerve injury by the organism or a toxin, or autoimmune mechanisms.[16]

Malfunction of the sodium-potassium pump may be a factor in some dystonias. The Na+-K+ pump has been shown to control and set the intrinsic activity mode of cerebellar Purkinje neurons.[17] This suggests that the pump might not simply be a homeostatic, "housekeeping" molecule for ionic gradients; but could be a computational element in the cerebellum and the brain.[18] Indeed, an ouabain block of Na+-K+ pumps in the cerebellum of a live mouse results in it displaying ataxia and dystonia.[19] Ataxia is observed for lower ouabain concentrations, dystonia is observed at higher ouabain concentrations. A mutation in the Na+-K+ pump (ATP1A3 gene) can cause rapid onset dystonia parkinsonism.[20] The parkinsonism aspect of this disease may be attributable to malfunctioning Na+-K+ pumps in the basal ganglia; the dystonia aspect may be attributable to malfunctioning Na+-K+ pumps in the cerebellum (that act to corrupt its input to the basal ganglia) possibly in Purkinje neurons.[17]

Cerebellar involvement in dystonia has been described as follows:

> Although dystonia has traditionally been regarded as a basal ganglia dysfunction, recent provocative evidence has emerged of cerebellar involvement in the pathophysiology of this enigmatic disease. It has been suggested that the cerebellum plays an important role in dystonia etiology, from neuroanatomical research of complex networks showing that the cerebellum is connected to a wide range of other central nervous system structures involved in movement control to animal models indicating that signs of dystonia are due to cerebellum dysfunction and completely disappear after cerebellectomy, and finally to clinical observations in secondary dystonia patients with various types of cerebellar lesions. It is proposed that dystonia is a large-scale dysfunction, involving not only cortico-basal ganglia-thalamo-cortical pathways, but the cortico-ponto-cerebello-thalamo-cortical loop as well. Even in the absence of traditional "cerebellar signs" in most dystonia patients, there are more subtle indications of cerebellar dysfunction. It is clear that as long as the cerebellum's role in dystonia genesis remains unexamined, it will be difficult to significantly improve the current standards of dystonia treatment or to provide curative treatment.[21]

## Treatment

Various treatments focus on sedating brain functions or blocking nerve communications with the muscles via drugs, neuro-suppression, or selective denervation surgery.[22] Almost all treatments have negative side-effects and risks. A geste antagoniste is a physical gesture or position (such as touching one's chin) that temporarily interrupts dystonia, it is also known as a sensory trick.[23] Patients may be aware of the presence of a geste antagoniste that provides some relief.[24] Therapy for dystonia can involve prosthetics that passively simulate the stimulation.[25]

### Physical intervention

While research in the area of effectiveness of physical therapy intervention for dystonia remains weak,[26] there is reason to believe that rehabilitation can benefit dystonia patients.[27] Physical therapy can be utilized to manage changes in balance, mobility and overall function that occur as a result of the disorder.[28] A variety of treatment strategies can be employed to address the unique needs of each individual. Potential treatment interventions include splinting,[29] therapeutic exercise, manual stretching, soft tissue and joint mobilization, postural training and bracing,[27] neuromuscular electrical stimulation, constraint-induced movement therapy, activity and environmental modification, and gait training.[28]

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.[30] 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.[31]

Since the root of the problem is neurological, doctors have explored sensorimotor retraining activities to enable the brain to "rewire" itself and eliminate dystonic movements. The work of several doctors such as Nancy Byl and Joaquin Farias has shown that sensorimotor retraining activities and proprioceptive stimulation can induce neuroplasticity, making it possible for patients to recover substantial function that was lost due to Cervical Dystonia, hand dystonia, blepharospasm, oromandibular dystonia, dysphonia and musicians' dystonia.[32][33][34][35][36]

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.[30] To date, focal cervical dystonia has received the most research attention;[28] however, study designs are poorly controlled and limited to small sample sizes.[26]

#### Baclofen

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. Baclofen can also be taken in tablet form[37]

#### Botulinum toxin injection

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 or Dysport 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 must be repeated, as the effects wear off and around 15% of recipients develop immunity to the toxin. There is a Type A and a Type B toxin approved for treatment of dystonia; often, those that develop resistance to Type A may be able to use Type B.[38]

#### Muscle relaxants

Clonazepam, a benzodiazepine, 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.

#### Ketogenic diet

One complex case study found that a ketogenic type diet may have been helpful in reducing symptoms associated with alternating hemiplegia of childhood (AHC) of a young child. However, as the researchers noted, their results could have been corollary in nature and not due to the diet itself, though future research is warranted.[39]

### Surgery

Schematic representation of a patient with cervical dystonia, with deep brain stimulation (DBS) electrodes implanted in the internal globus pallidus (GPi)

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 be considered only 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.[40] DBS as treatment for medication-refractory dystonia, on the other hand, may increase the risk of suicide in patients. However, reference data of patients without DBS therapy are lacking.[41]

### Non-invasive MRgFUS treatment

The first successful non-invasive treatment of medication-refractory focal hand dystonia[42] and of cervical dystonia[43] using MRI-guided focused ultrasound have been reported. The method does not require incision, general anaesthesia, or device implantation. In the United States, the Food and Drug Administration has approved this method only for the treatment of essential tremor and Parkinson's disease.[citation needed] Some other countries[which?] have approved this treatment for dystonia.[citation needed]

MRgFUS treatment. Doctors perform neurological tests on a conscious patient with dystonia.

## Epidemiology

Dystonia is considered the third most common movement disorder after Parkinson's disease and essential tremor.[44] Epidemiological data vary due to differences in study design, diagnostic criteria, and population ascertainment, with service-based studies often underestimating prevalence compared to population-based approaches.[45] Prevalence and incidence vary by study. A 2022 meta-analysis reported a pooled prevalence of idiopathic/inherited isolated dystonia of ~30.9 per 100,000 (95% CI 5.1–187.7), with subtype estimates (per 100,000) of cervical 9.95, blepharospasm 2.82, upper-limb 1.27, oromandibular 0.57, and laryngeal 0.40.[45]

## History

The Italian Bernardino Ramazzini provided one of the first descriptions of task-specific dystonia in 1713 in a book of occupational diseases, The Morbis Artificum.[46] In chapter II of this book's Supplementum, Ramazzini noted that "Scribes and Notaries" may develop "incessant movement of the hand, always in the same direction … the continuous and almost tonic strain on the muscles ... that results in failure of power in the right hand". A report from the British Civil Service also contained an early description of writer's cramp. In 1864, Solly coined the term "scrivener's palsy" for this condition. These historical reports usually attributed the etiology of the motor abnormalities to overuse. Then, dystonia was reported in detail in 1911, when Hermann Oppenheim,[47] Edward Flatau and Wladyslaw Sterling described some Jewish children affected by a syndrome that was retrospectively considered to represent familial cases of DYT1 dystonia. Some decades later, in 1975, the first international conference on dystonia was held in New York. It was then recognized that, in addition to severe generalized forms, the dystonia phenotype also encompasses poorly-progressive focal and segmental cases with onset in adulthood, such as blepharospasm, torticollis and writer's cramp. These forms were previously considered independent disorders and were mainly classified among neuroses. A modern definition of dystonia was worded some years later, in 1984. During the following years it became evident that dystonia syndromes are numerous and diversified, new terminological descriptors (e.g., dystonia plus, heredodegenerative dystonias, etc.) and additional classification schemes were introduced. The clinical complexity of dystonia was then fully recognized.[48]

## See also

* Extrapyramidal symptoms
* Hypertonia
* Sydenham's chorea
* Ulegyria (brain condition with dystonia symptoms)

## References

1. ↑ 1.0 1.1 "Dystonias Fact Sheet". National Institute of Neurological Disorders and Stroke. https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Dystonias-Fact-Sheet.
2. ↑ 2.0 2.1 "Dystonia: an update on phenomenology, classification, pathogenesis and treatment". Current Opinion in Neurology 27 (4): 468–476. August 2014. doi:10.1097/WCO.0000000000000114. PMID 24978640.
3. ↑ "Down on the Pharm': All About Acute Dystonic Reaction". EMSvillage.com. http://www.emsvillage.com/articles/article.cfm?id=1137.
4. ↑ Balint, Bettina; Mencacci, Niccolò E.; Valente, Enza Maria; Pisani, Antonio; Rothwell, John; Jankovic, Joseph; Vidailhet, Marie; Bhatia, Kailash P. (2018-09-20). "Dystonia" (in en). Nature Reviews Disease Primers 4 (1): 25. doi:10.1038/s41572-018-0023-6. ISSN 2056-676X. https://www.nature.com/articles/s41572-018-0023-6.
5. ↑ "Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia". Annals of Neurology 73 (4): 546–553. April 2013. doi:10.1002/ana.23832. PMID 23424103.
6. ↑ "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". Annals of Neurology 49 (3): 362–366. March 2001. doi:10.1002/ana.73. PMID 11261511.
7. ↑ "A novel locus for inherited myoclonus-dystonia on 18p11". Neurology 59 (8): 1183–1186. October 2002. doi:10.1212/WNL.59.8.1183. PMID 12391345.
8. ↑ "A novel locus for autosomal recessive primary torsion dystonia (DYT17) maps to 20p11.22-q13.12". Neurogenetics 9 (4): 287–293. October 2008. doi:10.1007/s10048-008-0142-4. PMID 18688663.
9. ↑ "[Myoclonic dystonia"] (in fr). Revue Neurologique 159 (10 Pt 1): 892–899. October 2003. PMID 14615678. http://www.masson.fr/masson/MDOI-RN-10-2003-159-10-C1-0035-3787-101019-ART7. Retrieved 22 November 2008.
10. ↑ "A major locus for several phenotypes of myoclonus--dystonia on chromosome 7q". Neurology 56 (9): 1213–1216. May 2001. doi:10.1212/WNL.56.9.1213. PMID 11342690.
11. ↑ "Genetics in dystonia: an update". Current Neurology and Neuroscience Reports 13 (12). December 2013. doi:10.1007/s11910-013-0410-z. PMID 24136457.
12. ↑ "SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia". Neurogenetics 15 (1): 23–30. March 2014. doi:10.1007/s10048-013-0378-5. PMID 24135862.
13. ↑ "Nefazadone-induced acute dystonic reaction". Veterinary and Human Toxicology 41 (5): 321–322. October 1999. PMID 10509438.
14. ↑ 14.0 14.1 "Dystonia in Huntington's disease: prevalence and clinical characteristics". Movement Disorders 14 (1): 95–101. January 1999. doi:10.1002/1531-8257(199901)14:1<95::AID-MDS1016>3.0.CO;2-8. PMID 9918350.
15. ↑ "The genetics of dystonia: new twists in an old tale". Brain 136 (Pt 7): 2017–2037. July 2013. doi:10.1093/brain/awt138. PMID 23775978.
16. ↑ "Dystonia and chorea in acquired systemic disorders". Journal of Neurology, Neurosurgery, and Psychiatry 65 (4): 436–445. October 1998. doi:10.1136/jnnp.65.4.436. PMID 9771763.
17. ↑ 17.0 17.1 "The sodium-potassium pump controls the intrinsic firing of the cerebellar Purkinje neuron". PLOS ONE 7 (12). 2012. doi:10.1371/journal.pone.0051169. PMID 23284664. Bibcode: 2012PLoSO...751169F.
18. ↑ "The sodium-potassium pump is an information processing element in brain computation". Frontiers in Physiology 5: 472. 2014. doi:10.3389/fphys.2014.00472. PMID 25566080.
19. ↑ "The neural substrates of rapid-onset Dystonia-Parkinsonism". Nature Neuroscience 14 (3): 357–365. March 2011. doi:10.1038/nn.2753. PMID 21297628.
20. ↑ "Paying the price at the pump: dystonia from mutations in a Na+/K+ -ATPase". Neuron 43 (2): 153–154. July 2004. doi:10.1016/j.neuron.2004.07.002. PMID 15260948.
21. ↑ "Dystonia and the cerebellum: a new field of interest in movement disorders?". Clinical Neurophysiology 124 (7): 1269–76. July 2013. doi:10.1016/j.clinph.2013.01.003. PMID 23422326.
22. ↑ Mayo Clinic Staff (18 Jun 2022). "Dystonia". https://www.mayoclinic.org/diseases-conditions/dystonia/diagnosis-treatment/drc-20350484.
23. ↑ Movement disorders: neurologic principles & practice. McGraw-Hill Professional. 2004. pp. 502–. ISBN 978-0-07-137496-5. https://books.google.com/books?id=6GtoPaZ4MpgC&pg=PA502. Retrieved 30 May 2011.
24. ↑ "Factors that ameliorate or aggravate spasmodic torticollis". Journal of Neurology, Neurosurgery, and Psychiatry 68 (2): 227–229. February 2000. doi:10.1136/jnnp.68.2.227. PMID 10644795.
25. ↑ "Dystonia: Treatment - MayoClinic.com". http://www.mayoclinic.com/health/dystonia/DS00684/DSECTION=7.
26. ↑ 26.0 26.1 "Cervical dystonia: disease profile and clinical management". Physical Therapy 87 (11): 1511–1526. November 2007. doi:10.2522/ptj.20060272. PMID 17878433.
27. ↑ 27.0 27.1 "Treatment of generalized dystonia". Current Treatment Options in Neurology 13 (3): 274–289. June 2011. doi:10.1007/s11940-011-0122-0. PMID 21455718.
28. ↑ 28.0 28.1 28.2 Okun, M.S., ed (2009). "The Role of Physical Therapy in the Management of Dystonia". The Dystonia Patient: A Guide to Practical Management. New York: Demos Medical. pp. 117–48. ISBN 978-1-933864-62-4. OCLC 429666586. https://archive.org/details/dystoniapatientg00okun.
29. ↑ "Limb immobilization for the treatment of focal occupational dystonia". Neurology 57 (3): 405–409. August 2001. doi:10.1212/WNL.57.3.405. PMID 11502904.
30. ↑ 30.0 30.1 "Effect of Rehabilitation on Parkinson's Disease with Truncal Dystonia". Journal of Tokushima 2: 47–50. 2011. http://www.tokusimahosp-nho.jp/journal/2011_1/47-50.pdf. Retrieved 6 May 2012.
31. ↑ "Physiotherapy in cervical dystonia: six experimental single-case studies". Physiotherapy Theory and Practice 24 (4): 275–290. 2009. doi:10.1080/09593980701884816. PMID 18574753.
32. ↑ "Cervical Dystonia. Rewiring the brain through dance.". TEDx Talk. 13 July 2015. https://www.youtube.com/watch?v=DwkHK3rfKO0.
33. ↑ "Dystonia. Your movement can heal your brain.". TEDx Talk. 13 July 2015. https://www.youtube.com/watch?v=czW-xBvDtHY.
34. ↑ "Choosing music over meds, one man's quest to retrain his brain to overcome dystonia". 8 March 2015. https://www.youtube.com/watch?v=IpcXkV_ex8Y.
35. ↑ "Elite musicians treated by specific fingers motion program to stimulate proprioceptive sense". Congreso Nacional De La Sociedad Anatómica Española. Alicante (España). p. 110.
36. ↑ "Open Your Eyes Part 1 . Freedom from Blepharospasm. Documentary". Out of the Box Productions.. 2 February 2013. https://www.youtube.com/watch?v=BlWXcsjyswY.
37. ↑ Parkinson's Disease & Movement Disorders (5th ed.). Philadelphia: Lippincott Williams & Wilkins. 2007. pp. 349–50. ISBN 978-0-7817-7881-7.
38. ↑ "Safety and efficacy of NeuroBloc (botulinum toxin type B) in type A-resistant cervical dystonia". Neurology 53 (7): 1431–1438. October 1999. doi:10.1212/WNL.53.7.1431. PMID 10534247.
39. ↑ "Excellent response to a ketogenic diet in a patient with alternating hemiplegia of childhood". JIMD Reports 15: 7–12. 16 February 2014. doi:10.1007/8904_2013_292. PMID 24532324.
40. ↑ "Deep brain stimulation for generalised dystonia and spasmodic torticollis". Journal of Clinical Neuroscience 12 (1): 12–16. January 2005. doi:10.1016/j.jocn.2004.03.025. PMID 15639404.
41. ↑ "Suicide after deep brain stimulation of the internal globus pallidus for dystonia". Neurology 66 (1): 142–143. January 2006. doi:10.1212/01.wnl.0000191328.05752.e2. PMID 16401868.
42. ↑ "Magnetic resonance-guided focused ultrasound thalamotomy for focal hand dystonia: a pilot study". Movement Disorders 36 (8): 1955–59. August 2021. doi:10.1002/mds.28613. PMID 37900622.
43. ↑ "MRI-Guided Focused Ultrasound in Cervical Dystonia". Annals of Clinical and Experimental Neurology 17 (4): 28–34. December 2023. doi:10.54101/ACEN.2023.4.3.
44. ↑ Dressler, Dirk; Altenmüller, Eckart; Giess, Ralf; Krauss, Joachim K.; Adib Saberi, Fereshte (2022-12-01). "The epidemiology of dystonia: the Hannover epidemiology study" (in en). Journal of Neurology 269 (12): 6483–6493. doi:10.1007/s00415-022-11310-9. ISSN 1432-1459. PMID 35948800.
45. ↑ 45.0 45.1 Medina, Alex; Nilles, Christelle; Martino, Davide; Pelletier, Catherine; Pringsheim, Tamara (2022). "The Prevalence of Idiopathic or Inherited Isolated Dystonia: A Systematic Review and Meta-Analysis" (in en). Movement Disorders Clinical Practice 9 (7): 860–868. doi:10.1002/mdc3.13524. ISSN 2330-1619. PMID 36247920.
46. ↑ Ramazzini B. Diseases of Workers. Translated from De Morbis Artificum of 1713 by Wilmer Cave Wright. New York: Haffner, 1964
47. ↑ "Dystonia". The New England Journal of Medicine 355 (8): 818–829. August 2006. doi:10.1056/NEJMra055549. PMID 16928997.
48. ↑ "A History of Dystonia". The International Parkinson and Movement Disorder Society. August 2013. http://www.movementdisorders.org/MDS/News/Online-Web-Edition/Archived-Editions/A-History-of-Dystonia.htm.

## External links

* A Boston Marathon record is about to be set – by a man with a movement disorder in The Washington Post
* 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

Classification|

* ICD-10: G24.9
* ICD-10-CM: G24
* ICD-9-CM: 333
* OMIM: 128100
* MeSH: D004421
* DiseasesDB: 17912
* SNOMED CT: 250068003

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External resources|

* GeneReviews: Dystonia Overview

* v
* t
* e

Diseases of the nervous system, primarily CNS (G04–G47, 323–349)

Inflammation|

| Brain|

* Encephalitis
* Viral encephalitis
* Herpesviral encephalitis
* Limbic encephalitis
* Encephalitis lethargica
* Cavernous sinus thrombosis
* Brain abscess
* Amoebic

|

Spinal cord|

* Myelitis: Poliomyelitis
* Demyelinating disease
* Transverse myelitis
* Tropical spastic paraparesis
* Epidural abscess

Both/either|

* Encephalomyelitis
* Acute disseminated
* Myalgic
* Meningoencephalitis

Brain/
encephalopathy|

| Degenerative|

| Extrapyramidal and
movement disorders|

* Basal ganglia disease
* Parkinsonism
* PD
* Postencephalitic
* NMS
* PKAN
* Tauopathy
* PSP
* Striatonigral degeneration
* Hemiballismus
* HD
* OA

* Dyskinesia
* Dystonia
* Status dystonicus
* Spasmodic torticollis
* Meige's
* Blepharospasm
* Athetosis
* Chorea
* Choreoathetosis
* Myoclonus
* Myoclonic epilepsy
* Akathisia

* Tremor
* Essential tremor
* Intention tremor
* Restless legs
* Stiff-person

|

Dementia|

* Tauopathy
* Alzheimer's
* Early-onset
* Primary progressive aphasia
* Frontotemporal dementia/Frontotemporal lobar degeneration
* Pick's
* Dementia with Lewy bodies
* Posterior cortical atrophy

* Vascular dementia

Mitochondrial disease|

* Leigh syndrome

Demyelinating|

* autoimmune
* Multiple sclerosis
* Neuromyelitis optica
* Schilder's disease
* hereditary
* Adrenoleukodystrophy
* Alexander
* Canavan
* Krabbe
* ML
* PMD
* VWM
* MFC
* CAMFAK syndrome
* Central pontine myelinolysis
* Marchiafava–Bignami disease
* Alpers' disease

Episodic/
paroxysmal|

| Seizure/epilepsy|

* Focal
* Generalised
* Status epilepticus
* Myoclonic epilepsy

|

Headache|

* Migraine
* Familial hemiplegic
* Cluster
* Tension

Cerebrovascular|

* TIA
* Amaurosis fugax
* Transient global amnesia
* Acute aphasia

* Stroke
* MCA
* ACA
* PCA
* Foville's
* Millard–Gubler
* Lateral medullary
* Medial medullary
* Weber's
* Lacunar stroke

Sleep disorders|

* Insomnia
* Hypersomnia
* Sleep apnea
* Obstructive
* Congenital central hypoventilation syndrome
* Narcolepsy
* Cataplexy
* Kleine–Levin
* Circadian rhythm sleep disorder
* Advanced sleep phase disorder
* Delayed sleep phase disorder
* Non-24-hour sleep–wake disorder
* Jet lag

CSF|

* Intracranial hypertension
* Hydrocephalus/NPH
* Choroid plexus papilloma
* Idiopathic intracranial hypertension
* Cerebral edema
* Intracranial hypotension

Other|

* Brain herniation
* Reye's
* Hepatic encephalopathy
* Toxic encephalopathy
* Hashimoto's encephalopathy

Spinal cord/
myelopathy|

* Syringomyelia
* Syringobulbia
* Morvan's syndrome
* Vascular myelopathy
* Foix–Alajouanine syndrome
* Spinal cord compression

Both/either|

| Degenerative|

| SA|

* Friedreich's ataxia
* Ataxia–telangiectasia

|

MND|

* UMN only:
* Primary lateral sclerosis
* Pseudobulbar palsy
* Hereditary spastic paraplegia

* LMN only:
* Distal hereditary motor neuronopathies
* Spinal muscular atrophies
* SMA
* SMAX1
* SMAX2
* DSMA1
* Congenital DSMA
* SMA-PCH
* SMA-LED
* SMA-PME
* Progressive muscular atrophy
* Progressive bulbar palsy
* Fazio–Londe
* Infantile progressive bulbar palsy

* both:
* Amyotrophic lateral sclerosis

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Original source: https://en.wikipedia.org/wiki/Dystonia. Read more

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