View source for Dystonia

{{short description|Neurological movement disorder}}
{{Distinguish|dystopia}}
{{Use dmy dates|date=January 2020}}
{{Infobox medical condition (new)
| name          = Dystonia
| image         = Dystonia2010.JPG
| caption       = A person with medication-induced dystonia
| field         = [[Neurology]]
| symptoms      =
| complications = physical disabilities ([[contractures]], [[torticollis]]),<ref name="BMJ Best Practice">{{cite web | title=Dystonia | website=BMJ Best Practice | url=https://bestpractice.bmj.com/topics/en-us/1096/complications | access-date=2020-05-21 |url-access=subscription}}</ref> pain and fatigue<ref name="NCH Healthcare System">{{cite web | title=Dystonia | website=NCH Healthcare System | date=8 March 2006 | url=https://www.nchmd.org/education/mayo-health-library/details/CON-20155108 | access-date=2020-05-21 |publisher=Mayo Foundation for Medical Education and Research}}</ref>
| onset         =
| duration      =
| types         =
| causes        = hereditary ([[DYT1]]); birth injury; head trauma; medication; infection; toxins
| risks         =
| diagnosis     = genetic testing, [[electromyography]], blood tests, [[MRI]] or [[CT scan]]
| differential  =
| prevention    =
| treatment     = medication, physical therapy, [[botulinum toxin]] injection, [[deep brain stimulation]]
| medication    = [[anticholinergics]], [[dopamine agonists]]
| prognosis     =
| frequency     =
| deaths        =
| alt           =
}}
'''Dystonia''' is a [[neurology|neurological]] [[Hyperkinesia|hyperkinetic]] [[Movement disorders|movement disorder]]  in which sustained or repetitive muscle contractions occur involuntarily, resulting in twisting and repetitive movements or abnormal fixed postures.<ref name="NINDS">{{cite web|url=https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Dystonias-Fact-Sheet|title=Dystonias Fact Sheet | work = National Institute of Neurological Disorders and Stroke |access-date=2 May 2018|url-status=live|archive-url=https://web.archive.org/web/20180423024443/https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Dystonias-Fact-Sheet|archive-date=23 April 2018|df=dmy-all}}</ref> The movements may resemble a [[tremor]]. Dystonia is often intensified or exacerbated by physical activity, and symptoms may progress into adjacent muscles.<ref name="pmid24978640">{{cite journal | vauthors = Balint B, Bhatia KP | title = Dystonia: an update on phenomenology, classification, pathogenesis and treatment | journal = Current Opinion in Neurology | volume = 27 | issue = 4 | pages = 468–476 | date = August 2014 | pmid = 24978640 | doi = 10.1097/WCO.0000000000000114 }}</ref>
The disorder may be [[Heredity|hereditary]] or caused by other factors such as [[birth trauma (physical)|birth-related]] or other [[Injury|physical trauma]], [[infection]], poisoning (e.g., [[lead poisoning]]) or reaction to [[Medication|pharmaceutical drug]]s, particularly [[Antipsychotic|neuroleptic]]s,<ref name="NINDS" /> or stress. Treatment must be highly customized to the needs of the individual and may include oral medications, chemodenervation [[Botulinum toxin|botulinum neurotoxin]] injections, physical therapy, or other supportive therapies, and surgical procedures such as [[deep brain stimulation]].
==Classification==
{{layout|section|reason=Subsections should be integrated into text, short lists should be converted to full sentences in coherent paragraphs, its entirety should be integrated into the text of the remainder of the article|date=January 2024}}
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, and
# Cause (which includes changes or damage to the nervous system and inheritance).<ref name="pmid24978640"/>
Physicians use these classifications to guide diagnosis and treatment.
===Types===
* [[#Generalized dystonias|Generalized]]
* [[#Focal dystonias|Focal]]
* Psychogenic
* Acute dystonic reaction<ref name="emsvillage.com">{{cite web | url=http://www.emsvillage.com/articles/article.cfm?id=1137 | title=Down on the Pharm': All About Acute Dystonic Reaction | publisher=EMSvillage.com | vauthors = Hayes CM | archive-url=https://web.archive.org/web/20061115103914/http://www.emsvillage.com/articles/article.cfm?id=1137 | archive-date=15 November 2006 | url-status=dead}}</ref>
* [[Vegetative-vascular dystonia|Vegetative-vascular]]
===Generalized dystonias===
For example, dystonia musculorum deformans (Oppenheim, Flatau-Sterling syndrome):
<ref name="pmid17129379">{{cite journal | vauthors = Kamm C | title = Early onset torsion dystonia (Oppenheim's dystonia) | journal = Orphanet Journal of Rare Diseases | volume = 1 | issue = 1 | pages = 48 | date = November 2006 | pmid = 17129379 | pmc = 1693547 | doi = 10.1186/1750-1172-1-48 | doi-access = free }}</ref>
* Normal birth history and milestones
* Autosomal dominant
* Childhood onset
* Starts in lower limbs and spreads upwards
Also known as [[torsion dystonia]] or idiopathic torsion dystonia (old terminology "dystonia musculorum deformans").
===Focal dystonias===
{{main|Focal dystonia}}
These most common dystonias are typically classified as follows:
{| class="wikitable"
|-
! 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 [[Human eyes|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===
{{Anchor|DYT1 |DYT2 |DYT3 |DYT4 |DYT5a |DYT5b |DYT6 |DYT7 |DYT8 |DYT9 |DYT10 |DYT11 |DYT12 |DYT13 |DYT14 |DYT15 |DYT16 |DYT17 |DYT18 |DYT19 |DYT20 |DYT21 |DYT22 |DYT23 |DYT24}}
{| class="wikitable"
|-
! Symbol
! [[OMIM]]
! Gene
! Locus
! Alt Name
|-
| DYT1
| {{OMIM|128100||none}}
| [[Torsin A|TOR1A]]
| 9q34
| [[Early-onset torsion dystonia]]
|-
| DYT2
| {{OMIM|224500||none}}
| HPCA
| 1p35-p34.2
| Autosomal recessive primary isolated dystonia
|-
| DYT3
| {{OMIM|314250||none}}
| [[TAF1]]
| Xq13
| [[X-linked dystonia parkinsonism]]
|-
| DYT4
| {{OMIM|128101||none}}
| [[TUBB4]]<ref name=DYT4>{{cite journal | vauthors = Hersheson J, Mencacci NE, Davis M, MacDonald N, Trabzuni D, Ryten M, Pittman A, Paudel R, Kara E, Fawcett K, Plagnol V, Bhatia KP, Medlar AJ, Stanescu HC, Hardy J, Kleta R, Wood NW, Houlden H | display-authors = 6 | title = Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia | journal = Annals of Neurology | volume = 73 | issue = 4 | pages = 546–553 | date = April 2013 | pmid = 23424103 | pmc = 3698699 | doi = 10.1002/ana.23832 }}</ref>
| 19p13.12-13
| Autosomal dominant whispering dysphonia
|-
| DYT5a
| {{OMIM|128230||none}}
| [[GCH1]]
| 14q22.1-q22.2
| [[Autosomal dominant GTP cyclohydrolase I deficiency|Autosomal dominant dopamine-responsive dystonia]]
|-
| DYT5b
| {{OMIM|191290||none}}
| [[Tyrosine hydroxylase|TH]]
| 11p15.5
| [[Tyrosine hydroxylase deficiency|Autosomal recessive dopamine-responsive dystonia]]
|-
| DYT6
| {{OMIM|602629||none}}
| [[THAP1]]
| 8p11.21
| Autosomal dominant dystonia with cranio-cervical predilection
|-
| DYT7
| {{OMIM|602124||none}}
| unknown
| 18p (questionable)
| Autosomal dominant primary focal [[cervical dystonia]]
|-
| DYT8
| {{OMIM|118800||none}}
| [[PNKD|MR1]]
| 2q35
| [[Paroxysmal nonkinesigenic dyskinesia]]
|-
| DYT9
| {{OMIM|601042||none}}
| [[SLC2A1]]
| 1p35-p31.3
| Episodic choreoathetosis/spasticity (now known to be synonymous with DYT18)
|-
| DYT10
| {{OMIM|128200||none}}
| [[PRRT2]]
| 16p11.2-q12.1
| [[Paroxysmal kinesigenic dyskinesia]]
|-
| DYT11
| {{OMIM|159900||none}}
| [[SGCE]]
| 7q21
| [[Myoclonic dystonia]]
|-
| DYT12
| {{OMIM|128235||none}}
| [[ATP1A3]]
| 19q12-q13.2
| Rapid-onset dystonia parkinsonism and [[alternating hemiplegia of childhood]]
|-
| DYT13
| {{OMIM|607671||none}}
| unknown, near D1S2667<ref name="pmid11261511">{{cite journal | vauthors = Valente EM, Bentivoglio AR, Cassetta E, Dixon PH, Davis MB, Ferraris A, Ialongo T, Frontali M, Wood NW, Albanese A | display-authors = 6 | title = 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 | journal = Annals of Neurology | volume = 49 | issue = 3 | pages = 362–366 | date = March 2001 | pmid = 11261511 | doi = 10.1002/ana.73 | s2cid = 20850908 }}</ref>
| 1p36.32-p36.13
| Autosomal dominant cranio-cervical/upper limb dystonia in one Italian family
|-
| DYT14
| See DYT5
|
|
|
|-
| DYT15
| {{OMIM|607488||none}}
| unknown
| 18p11<ref name="pmid12391345">{{cite journal | vauthors = Grimes DA, Han F, Lang AE, St George-Hyssop P, Racacho L, Bulman DE | title = A novel locus for inherited myoclonus-dystonia on 18p11 | journal = Neurology | volume = 59 | issue = 8 | pages = 1183–1186 | date = October 2002 | pmid = 12391345 | doi = 10.1212/WNL.59.8.1183 | s2cid = 22416848 }}</ref>
| [[Myoclonic dystonia]] not linked to SGCE mutations
|-
| DYT16
| {{OMIM|612067||none}}
| [[PRKRA]]
| 2q31.3
| Autosomal recessive young onset dystonia parkinsonism
|-
| DYT17
| {{OMIM|612406||none}}
| unknown, near D20S107<ref name="pmid18688663">{{cite journal | vauthors = Chouery E, Kfoury J, Delague V, Jalkh N, Bejjani P, Serre JL, Mégarbané A | title = A novel locus for autosomal recessive primary torsion dystonia (DYT17) maps to 20p11.22-q13.12 | journal = Neurogenetics | volume = 9 | issue = 4 | pages = 287–293 | date = October 2008 | pmid = 18688663 | doi = 10.1007/s10048-008-0142-4 | s2cid = 20343435 }}</ref>
| 20p11.2-q13.12
| Autosomal recessive dystonia in one family
|-
| DYT18
| {{OMIM|612126||none}}
| [[SLC2A1]]
| 1p35-p31.3
| Paroxysmal exercise-induced dyskinesia
|-
| DYT19
| {{OMIM|611031||none}}
| probably [[PRRT2]]
| 16q13-q22.1
| Episodic kinesigenic dyskinesia 2, probably synonymous with DYT10
|-
| DYT20
| {{OMIM|611147||none}}
| unknown
| 2q31
| Paroxysmal nonkinesigenic dyskinesia 2
|-
| DYT21
| {{OMIM|614588||none}}
| unknown
| 2q14.3-q21.3
| Late-onset torsion dystonia
|-
| DYT24
| {{OMIM|610110||none}}
| [[ANO3]]<ref name=DYT23>{{cite journal | vauthors = Charlesworth G, Plagnol V, Holmström KM, Bras J, Sheerin UM, Preza E, Rubio-Agusti I, Ryten M, Schneider SA, Stamelou M, Trabzuni D, Abramov AY, Bhatia KP, Wood NW | display-authors = 6 | title = Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis | journal = American Journal of Human Genetics | volume = 91 | issue = 6 | pages = 1041–1050 | date = December 2012 | pmid = 23200863 | pmc = 3516598 | doi = 10.1016/j.ajhg.2012.10.024 | author-link9 = Susanne Schneider }}</ref>
| 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 receptor D2|dopamine-D2 receptor]]. Some of these cases have responded well to alcohol.<ref>{{cite journal | vauthors = Cassim F | title = [Myoclonic dystonia] | language = fr | journal = Revue Neurologique | volume = 159 | issue = 10 Pt 1 | pages = 892–899 | date = October 2003 | pmid = 14615678 | url = http://www.masson.fr/masson/MDOI-RN-10-2003-159-10-C1-0035-3787-101019-ART7 | access-date = 22 November 2008 | url-status = dead | trans-title = Myoclonic dystonia | archive-url = https://web.archive.org/web/20200511094948/http://www.masson.fr/masson/MDOI-RN-10-2003-159-10-C1-0035-3787-101019-ART7 | archive-date = 11 May 2020 }}</ref><ref>{{cite journal | vauthors = Vidailhet M, Tassin J, Durif F, Nivelon-Chevallier A, Agid Y, Brice A, Dürr A | title = A major locus for several phenotypes of myoclonus--dystonia on chromosome 7q | journal = Neurology | volume = 56 | issue = 9 | pages = 1213–1216 | date = May 2001 | pmid = 11342690 | doi = 10.1212/WNL.56.9.1213 | s2cid = 10492653 }}</ref>
Other genes that have been associated with dystonia include [[CIZ1]], [[GNAL]], [[ATP1A3]], and [[PRRT2]].<ref name=Fuchs2013>{{cite journal | vauthors = Fuchs T, Ozelius LJ | title = Genetics in dystonia: an update | journal = Current Neurology and Neuroscience Reports | volume = 13 | issue = 12 | pages = 410 | date = December 2013 | pmid = 24136457 | pmc = 3877920 | doi = 10.1007/s11910-013-0410-z }}</ref> Another report has linked [[THAP1]] and [[SLC20A2]] to dystonia.<ref>{{cite journal | vauthors = Baker M, Strongosky AJ, Sanchez-Contreras MY, Yang S, Ferguson W, Calne DB, Calne S, Stoessl AJ, Allanson JE, Broderick DF, Hutton ML, Dickson DW, Ross OA, Wszolek ZK, Rademakers R | display-authors = 6 | title = SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia | journal = Neurogenetics | volume = 15 | issue = 1 | pages = 23–30 | date = March 2014 | pmid = 24135862 | pmc = 3969760 | doi = 10.1007/s10048-013-0378-5 }}</ref>
==Signs and symptoms==
[[File:Hemichorea and dystonia.ogv|thumb|[[Hyperglycemia]]-induced involuntary movements, which, in this case, did not consist of typical [[hemiballismus]] but rather of [[hemichorea]] (dance-like movements of one side of the body; ''initial movements of the right arm in the video'') and [[wikt:bilateral|bilateral]] dystonia (''slow muscle contraction in legs, chest, and right arm'') in a 62-year-old Japanese woman with [[type 1 diabetes]]]]
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.<ref>{{cite journal | vauthors = Burda A, Webster K, Leikin JB, Chan SB, Stokes KA | title = Nefazadone-induced acute dystonic reaction | journal = Veterinary and Human Toxicology | volume = 41 | issue = 5 | pages = 321–322 | date = October 1999 | pmid = 10509438 }}</ref>
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.<ref name=louis>{{cite journal | vauthors = Louis ED, Lee P, Quinn L, Marder K | title = Dystonia in Huntington's disease: prevalence and clinical characteristics | journal = Movement Disorders | volume = 14 | issue = 1 | pages = 95–101 | date = January 1999 | pmid = 9918350 | doi = 10.1002/1531-8257(199901)14:1<95::AID-MDS1016>3.0.CO;2-8 | s2cid = 7356997 }}</ref> Risk factors for increased dystonia in patients with [[Huntington's disease]] include long disease duration and use of [[antidopaminergic]] medication.<ref name=louis/>
==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 neuron]]s. The precise cause of primary dystonia is unknown. In many cases it may involve some genetic predisposition towards the disorder combined with environmental conditions.<ref>{{cite journal | vauthors = Charlesworth G, Bhatia KP, Wood NW | title = The genetics of dystonia: new twists in an old tale | journal = Brain | volume = 136 | issue = Pt 7 | pages = 2017–2037 | date = July 2013 | pmid = 23775978 | pmc = 3692036 | doi = 10.1093/brain/awt138 }}</ref>
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.<ref name=Janavs>{{cite journal | vauthors = Janavs JL, Aminoff MJ | title = Dystonia and chorea in acquired systemic disorders | journal = Journal of Neurology, Neurosurgery, and Psychiatry | volume = 65 | issue = 4 | pages = 436–445 | date = October 1998 | pmid = 9771763 | pmc = 2170280 | doi = 10.1136/jnnp.65.4.436 }}</ref>
Malfunction of the [[sodium-potassium pump]] may be a factor in some dystonias. The {{chem|Na|+}}-{{chem|K|+}} pump has been shown to control and set the intrinsic activity mode of [[cerebellar]] [[Purkinje neurons]].<ref name="Forrest MD, Wall MJ, Press DA, Feng J e51169">{{cite journal | vauthors = Forrest MD, Wall MJ, Press DA, Feng J | title = The sodium-potassium pump controls the intrinsic firing of the cerebellar Purkinje neuron | journal = PLOS ONE | volume = 7 | issue = 12 | pages = e51169 | year = 2012 | pmid = 23284664 | pmc = 3527461 | doi = 10.1371/journal.pone.0051169 | doi-access = free | bibcode = 2012PLoSO...751169F }}</ref> 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]].<ref>{{cite journal | vauthors = Forrest MD | title = The sodium-potassium pump is an information processing element in brain computation | journal = Frontiers in Physiology | volume = 5 | pages = 472 | year = 2014 | pmid = 25566080 | pmc = 4274886 | doi = 10.3389/fphys.2014.00472 | doi-access = free }}</ref> Indeed, an [[ouabain]] block of {{chem|Na|+}}-{{chem|K|+}} pumps in the cerebellum of a live [[mouse]] results in it displaying [[ataxia]] and dystonia.<ref>{{cite journal | vauthors = Calderon DP, Fremont R, Kraenzlin F, Khodakhah K | title = The neural substrates of rapid-onset Dystonia-Parkinsonism | journal = Nature Neuroscience | volume = 14 | issue = 3 | pages = 357–365 | date = March 2011 | pmid = 21297628 | pmc = 3430603 | doi = 10.1038/nn.2753 }}</ref> Ataxia is observed for lower ouabain concentrations, dystonia is observed at higher ouabain concentrations. A mutation in the {{chem|Na|+}}-{{chem|K|+}} pump (ATP1A3 [[gene]]) can cause rapid onset dystonia parkinsonism.<ref>{{cite journal | vauthors = Cannon SC | title = Paying the price at the pump: dystonia from mutations in a Na+/K+ -ATPase | journal = Neuron | volume = 43 | issue = 2 | pages = 153–154 | date = July 2004 | pmid = 15260948 | doi = 10.1016/j.neuron.2004.07.002 | doi-access = free }}</ref> The [[parkinsonism]] aspect of this disease may be attributable to malfunctioning {{chem|Na|+}}-{{chem|K|+}} pumps in the [[basal ganglia]]; the dystonia aspect may be attributable to malfunctioning {{chem|Na|+}}-{{chem|K|+}} pumps in the cerebellum (that act to corrupt its input to the basal ganglia) possibly in [[Purkinje neurons]].<ref name="Forrest MD, Wall MJ, Press DA, Feng J e51169"/>
Cerebellum issues causing dystonia is described by Filip et al. 2013: "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 loop|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."<ref>{{cite journal | vauthors = Filip P, Lungu OV, Bareš M | title = Dystonia and the cerebellum: a new field of interest in movement disorders? | journal = Clinical Neurophysiology | volume = 124 | issue = 7 | pages = 1269–1276 | date = July 2013 | pmid = 23422326 | doi = 10.1016/j.clinph.2013.01.003 | s2cid = 22185709 }}</ref>
==Treatment==
Various treatments focus on sedating brain functions or blocking nerve communications with the muscles via drugs, neuro-suppression, or selective [[denervation]] surgery.<ref>{{Cite web | author = Mayo Clinic Staff |date=18 Jun 2022 |title=Dystonia |url=https://www.mayoclinic.org/diseases-conditions/dystonia/diagnosis-treatment/drc-20350484 |access-date=12 Mar 2023 |website=Mayo Clinic}}</ref> 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''.<ref name="WattsKoller2004">{{cite book| vauthors = Watts RL, Koller WC |title=Movement disorders: neurologic principles & practice|url=https://books.google.com/books?id=6GtoPaZ4MpgC&pg=PA502|access-date=30 May 2011|year=2004|publisher=McGraw-Hill Professional|isbn=978-0-07-137496-5|pages=502–}}</ref> Patients may be aware of the presence of a geste antagoniste that provides some relief.<ref>{{cite journal | vauthors = Jahanshahi M | title = Factors that ameliorate or aggravate spasmodic torticollis | journal = Journal of Neurology, Neurosurgery, and Psychiatry | volume = 68 | issue = 2 | pages = 227–229 | date = February 2000 | pmid = 10644795 | pmc = 1736788 | doi = 10.1136/jnnp.68.2.227 }}</ref> Therapy for dystonia can involve prosthetics that passively simulate the stimulation.<ref>{{Cite web |url=http://www.mayoclinic.com/health/dystonia/DS00684/DSECTION=7 |title=Dystonia: Treatment - MayoClinic.com |access-date=7 June 2007 |url-status=live |archive-url=https://web.archive.org/web/20070602020403/http://www.mayoclinic.com/health/dystonia/DS00684/DSECTION=7 |archive-date=2 June 2007 |df=dmy-all }}</ref>
===Physical intervention===
While research in the area of effectiveness of [[physical therapy]] intervention for dystonia remains weak,<ref name=Crowner>{{cite journal | vauthors = Crowner BE | title = Cervical dystonia: disease profile and clinical management | journal = Physical Therapy | volume = 87 | issue = 11 | pages = 1511–1526 | date = November 2007 | pmid = 17878433 | doi = 10.2522/ptj.20060272 | doi-access = free }}</ref> there is reason to believe that rehabilitation can benefit dystonia patients.<ref name=Lubarr>{{cite journal | vauthors = Lubarr N, Bressman S | title = Treatment of generalized dystonia | journal = Current Treatment Options in Neurology | volume = 13 | issue = 3 | pages = 274–289 | date = June 2011 | pmid = 21455718 | doi = 10.1007/s11940-011-0122-0 | s2cid = 21253455 }}</ref> Physical therapy can be utilized to manage changes in balance, mobility and overall function that occur as a result of the disorder.<ref name=myers>{{cite book | vauthors = Myers KJ, Bour B |chapter=The Role of Physical Therapy in the Management of Dystonia |editor=Okun, M.S. |title=The Dystonia Patient: A Guide to Practical Management |url=https://archive.org/details/dystoniapatientg00okun |url-access=limited |publisher=Demos Medical |location=New York |year=2009 |pages=[https://archive.org/details/dystoniapatientg00okun/page/n134 117]–48 |isbn=978-1-933864-62-4 | oclc=429666586 }}</ref> A variety of treatment strategies can be employed to address the unique needs of each individual.  Potential treatment interventions include splinting,<ref name=Priori>{{cite journal | vauthors = Priori A, Pesenti A, Cappellari A, Scarlato G, Barbieri S | title = Limb immobilization for the treatment of focal occupational dystonia | journal = Neurology | volume = 57 | issue = 3 | pages = 405–409 | date = August 2001 | pmid = 11502904 | doi = 10.1212/WNL.57.3.405 | s2cid = 36440551 }}</ref> therapeutic exercise, manual [[stretching]], soft tissue and [[joint mobilization]], postural training and bracing,<ref name=Lubarr /> [[neuromuscular electrical stimulation]], [[constraint-induced movement therapy]], activity and environmental modification, and [[gait training]].<ref name=myers />
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]].<ref name=Kawamichi /> 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.<ref name=Zetterberg>{{cite journal | vauthors = Zetterberg L, Halvorsen K, Färnstrand C, Aquilonius SM, Lindmark B | title = Physiotherapy in cervical dystonia: six experimental single-case studies | journal = Physiotherapy Theory and Practice | volume = 24 | issue = 4 | pages = 275–290 | year = 2009 | pmid = 18574753 | doi = 10.1080/09593980701884816 | s2cid = 20722262 }}</ref>
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.<ref>{{cite web | work = TEDx Talk | vauthors = Bitti F | title = Cervical Dystonia. Rewiring the brain through dance. |url= https://www.youtube.com/watch?v=DwkHK3rfKO0 | via =[[YouTube]] |access-date=24 January 2016 |url-status=live |archive-url=http://archive.wikiwix.com/cache/20160125113147/https://www.youtube.com/watch?v=DwkHK3rfKO0 |archive-date=25 January 2016 |df=dmy-all }}</ref><ref>{{cite web | work = TEDx Talk | vauthors = Farias J | title = Dystonia. Your movement can heal your brain. |url=https://www.youtube.com/watch?v=czW-xBvDtHY | via = [[YouTube]] |access-date=24 January 2016 |url-status=live |archive-url=http://archive.wikiwix.com/cache/20160126204837/https://www.youtube.com/watch?v=czW-xBvDtHY |archive-date=26 January 2016 |df=dmy-all }}</ref><ref>{{cite web |url=https://www.youtube.com/watch?v=IpcXkV_ex8Y |title=Choosing music over meds, one man's quest to retrain his brain to overcome dystonia |website=[[YouTube]] |access-date=24 January 2016 |url-status=live |archive-url=http://archive.wikiwix.com/cache/20160126075117/https://www.youtube.com/watch?v=IpcXkV_ex8Y |archive-date=26 January 2016 |df=dmy-all }}</ref><ref>{{cite conference | vauthors = Farias J, Sarti-Martínez MA | title = Elite musicians treated by specific fingers motion program to stimulate proprioceptive sense | conference = Congreso Nacional De La Sociedad Anatómica Española | location = Alicante (España) | via = European Journal of Anatomy | page = 110 }}</ref><ref>{{cite web |url=https://www.youtube.com/watch?v=BlWXcsjyswY |title=Open Your Eyes Part 1 . Freedom from Blepharospasm. Documentary | work = Out of the Box Productions. |via=[[YouTube]] |access-date=2 December 2016 |url-status=live |archive-url=https://web.archive.org/web/20160411114744/https://www.youtube.com/watch?v=BlWXcsjyswY |archive-date=11 April 2016 |df=dmy-all }}</ref>
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.<ref name=Kawamichi>{{cite journal| vauthors = Kawamichi K, Taichi H, Orie I, Mineta T, Sawada Y, Shimamura M, Matsumoto K, Kawamura K |title=Effect of Rehabilitation on Parkinson's Disease with Truncal Dystonia|journal=Journal of Tokushima|year=2011|volume=2|pages=47–50|access-date=6 May 2012|url=http://www.tokusimahosp-nho.jp/journal/2011_1/47-50.pdf }}{{dead link|date=September 2017 |bot=InternetArchiveBot |fix-attempted=yes }}</ref> To date, focal cervical dystonia has received the most research attention;<ref name=myers /> however, study designs are poorly controlled and limited to small sample sizes.<ref name=Crowner />
==== 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<ref name="PDBook">{{cite book  | vauthors = Jankovic J, Tolosa E | title = Parkinson's Disease & Movement Disorders  | edition = 5th  | publisher = [[Lippincott Williams & Wilkins]]  | year = 2007  | location = Philadelphia | pages = 349–50  | isbn = 978-0-7817-7881-7  }}</ref>
==== 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.<ref name="BtxB">{{cite journal | vauthors = Brin MF, Lew MF, Adler CH, Comella CL, Factor SA, Jankovic J, O'Brien C, Murray JJ, Wallace JD, Willmer-Hulme A, Koller M | display-authors = 6 | title = Safety and efficacy of NeuroBloc (botulinum toxin type B) in type A-resistant cervical dystonia | journal = Neurology | volume = 53 | issue = 7 | pages = 1431–1438 | date = October 1999 | pmid = 10534247 | doi = 10.1212/WNL.53.7.1431 }}</ref>
==== 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 diet|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.<ref>{{cite journal | vauthors = Roubergue A, Philibert B, Gautier A, Kuster A, Markowicz K, Billette de Villemeur T, Vuillaumier-Barrot S, Nicole S, Roze E, Doummar D | display-authors = 6 | title = Excellent response to a ketogenic diet in a patient with alternating hemiplegia of childhood | journal = JIMD Reports | volume = 15 | pages = 7–12 | date = 16 February 2014 | pmid = 24532324 | pmc = 4270868 | doi = 10.1007/8904_2013_292 }}</ref>
===Surgery===
[[File:GPi DBS for cervical dystonia.pdf|thumb|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.<ref name="DBS">{{cite journal | vauthors = Bittar RG, Yianni J, Wang S, Liu X, Nandi D, Joint C, Scott R, Bain PG, Gregory R, Stein J, Aziz TZ | display-authors = 6 | title = Deep brain stimulation for generalised dystonia and spasmodic torticollis | journal = Journal of Clinical Neuroscience | volume = 12 | issue = 1 | pages = 12–16 | date = January 2005 | pmid = 15639404 | doi = 10.1016/j.jocn.2004.03.025 | s2cid = 12036156 }}</ref> 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.<ref name="DBS_Suicide">{{cite journal | vauthors = Foncke EM, Schuurman PR, Speelman JD | title = Suicide after deep brain stimulation of the internal globus pallidus for dystonia | journal = Neurology | volume = 66 | issue = 1 | pages = 142–143 | date = January 2006 | pmid = 16401868 | doi = 10.1212/01.wnl.0000191328.05752.e2 | s2cid = 9070411 }}</ref>
==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.<ref>Ramazzini B. Diseases of Workers. Translated from De Morbis Artificum of 1713 by [[Wilmer Cave Wright]]. New York: Haffner, 1964{{full citation needed|date=June 2017}}</ref>
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 were reported in detail in 1911, when [[Hermann Oppenheim]],<ref name=Tarsy>{{cite journal | vauthors = Tarsy D, Simon DK | title = Dystonia | journal = The New England Journal of Medicine | volume = 355 | issue = 8 | pages = 818–829 | date = August 2006 | pmid = 16928997 | doi = 10.1056/NEJMra055549 }}</ref> [[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.<ref>{{cite web | vauthors = Albanese A | date = August 2013 |url=http://www.movementdisorders.org/MDS/News/Online-Web-Edition/Archived-Editions/A-History-of-Dystonia.htm |title=A History of Dystonia |access-date=6 January 2016 |url-status=live |archive-url=https://web.archive.org/web/20160304101754/http://www.movementdisorders.org/MDS/News/Online-Web-Edition/Archived-Editions/A-History-of-Dystonia.htm |archive-date=4 March 2016 |df=dmy-all | work = The International Parkinson and Movement Disorder Society }}</ref>
== See also ==
{{Portal|Medicine}}
<!-- Please keep entries in alphabetical order & add a short description [[WP:SEEALSO]] -->
* [[Extrapyramidal symptoms]]
* [[Hypertonia]]
* [[Sydenham's chorea]]
* [[Ulegyria]] (brain condition with dystonia symptoms)
<!-- please keep entries in alphabetical order -->
== References ==
{{Reflist}}
== External links ==
* [https://www.washingtonpost.com/national/health-science/a-boston-marathon-record-is-about-to-be-set--by-a-man-with-a-movement-disorder/2017/04/07/57523230-18a2-11e7-bcc2-7d1a0973e7b2_story.html A Boston Marathon record is about to be set – by a man with a movement disorder] in [[The Washington Post]]
* [https://www.ncbi.nlm.nih.gov/books/NBK1155/ GeneReview/NIH/UW entry on Dystonia Overview]
* [https://www.ncbi.nlm.nih.gov/books/NBK1492/ GeneReviews/NCBI/NIH/UW entry on Early-Onset Primary Dystonia]
* [https://www.pbs.org/independentlens/twisted/film.html Film on Dystonia] from [[Public Broadcasting Service]]
* [https://web.archive.org/web/20131231061329/http://www.nbcnews.com/id/19265007/ A story of one woman's struggle with dystonia] at MSNBC.com
{{Medical resources
| DiseasesDB      = 17912
| ICD10           = {{ICD10|G|24|9|g|20}}
| ICD9            = {{ICD9|333}}
| ICDO            =
| OMIM            = 128100
| MedlinePlus     =
| eMedicineSubj   =
| eMedicineTopic  =
| MeshID          = D004421
| GeneReviewsNBK  = NBK1155
| GeneReviewsName = Dystonia Overview
| oMIM_mult       = {{OMIM|224500||none}} {{OMIM|314250||none}} {{OMIM|128101||none}} {{OMIM|128230||none}} {{OMIM|602629||none}} {{OMIM|602124||none}} {{OMIM|118800||none}} {{OMIM|601042||none}} {{OMIM|128200||none}} {{OMIM|159900||none}} {{OMIM|128235||none}} {{OMIM|607671||none}} {{OMIM|607488||none}} {{OMIM|612067||none}} {{OMIM|612406||none}} {{OMIM|612126||none}} {{OMIM|611031||none}} {{OMIM|611147||none}}
| geneReviewsNBK2 = NBK1492
| geneReviewsName2= Early-Onset Primary Dystonia (DYT1)
| ICD10CM         = {{ICD10CM|G24}}
| SNOMED CT       = 250068003
}}
{{Diseases of the nervous system}}
{{Authority control}}
[[Category:Dystonia| ]]
[[Category:Extrapyramidal and movement disorders]]
[[Category:Adverse effects of psychoactive drugs]]
[[Category:Articles containing video clips]]