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Dystonia
Classification and external resources

A person with medication induced dystonia.
ICD-10 G24.9
ICD-9 333
DiseasesDB 17912
MeSH D004421

Dystonia is a neurological movement disorder in which sustained muscle contractions cause twisting and repetitive movements or abnormal postures.[1] 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]

Contents

Classification

Types of dystonia

  • Generalized
  • Focal
  • Segmental
  • Intermediate
  • Acute Dystonic Reaction[2]

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 musculrum deformans")

Focal dystonias

These are the most common dystonias and tend to be classified as follows:

Name Location Description
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 effective blindness.
Oculogyric crisis muscles of eye and head An extreme and sustained (usually) upward deviation of the eyes often with convergence causing diplopia. 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.
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 or 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 only apparent during 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.

Segmental dystonias

Segmental dystonias affect two adjoining parts of the body:

  • Hemidystonia affects an arm and a leg 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

Name OMIM Gene Locus Alt Name
DYT1 (or EOTD) 128100 DYT1 9q34 early-onset torsion dystonia
DYT2 224500 unknown unknown autosomal recessive torsion dystonia
DYT3 314250 TAF1 Xq13 X-linked torsion dystonia
DYT4 128101 unknown unknown autosomal dominant torsion dystonia
DYT5 (or DRD) 128230 GCH1 14q22.1-q22.2 Dopamine-responsive dystonia
DYT6 602629 THAP1 8p11.21
DYT7 602124 unknown 18p Primary cervical dystonia
DYT8 (or PNKD1) 118800 MR1 2q35 paroxysmal nonkinesigenic dyskinesia 1
DYT9 601042 possibly KCNA3[3] 1p episodic choreoathetosis/spasticity
DYT10 (or EKD1) 128200 unknown 16p11.2-q12.1 episodic kinesigenic dyskinesia 1
DYT11 159900 SGCE 7q21 Myoclonic dystonia
DYT12 128235 ATP1A3 19q12-q13.2
DYT13 607671 unknown, near D1S2667[4] 1p36.32-p36.13
DYT14 See DYT5
DYT15 607488 unknown 18p11[5] Myoclonic dystonia
DYT16 612067 PRKRA 2q31.3
DYT17 612406 unknown, near D20S107[6] 20p11.2-q13.12
DYT18 612126 SLC2A1 1p35-p31.3
DYT19 (or EKD2) 611031 unknown 16q13-q22.1 episodic kinesigenic dyskinesia 2
DYT20 (or PNKD2) 611147 unknown 2q31 paroxysmal nonkinesigenic dyskinesia 2

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.[7][8]

Signs symptoms

Hemichorea and dystonia.ogv
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 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, 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.[9]

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.

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, or other neuromuscular movement disorders.

Causes

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.

Treatment

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.

Physical intervention

Physical therapy can sometimes help with focal dystonia. A structured set of exercises is tailored to help the affected area.

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.

Medication

Different medications on 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).

Anticholinergics

Medications such as anticholinergics (benzatropine), which act as inhibitors of the neurotransmitter acetylcholine, may provide some relief. In the case of a 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.[2] In the case of Oculogyric crisis, diphenhydramine may be administered with excellent results with symptoms subsiding in a matter of minutes.[citation needed]

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.[10]

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.)

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.[11]

Surgery

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.[12] 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.[13]

See also

References

  1. ^ a b Dystonia fact sheet: National Institute of Neurological Disorders and Stroke http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm
  2. ^ a b http://www.emsvillage.com/articles/article.cfm?id=1137
  3. ^ Auburger G, Ratzlaff T, Lunkes A, et al. (January 1996). "A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of a potassium channel gene cluster on chromosome 1p, probably within 2 cM between D1S443 and D1S197". Genomics 31 (1): 90–4. doi:10.1006/geno.1996.0013. PMID 8808284. http://linkinghub.elsevier.com/retrieve/pii/S0888-7543(96)90013-0. 
  4. ^ 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. PMID 11261511. 
  5. ^ 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. http://www.neurology.org/cgi/pmidlookup?view=long&pmid=12391345. 
  6. ^ 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. http://dx.doi.org/10.1007/s10048-008-0142-4. 
  7. ^ Cassim F (Oct 2003). "[Myoclonic dystonia [Myoclonic dystonia]"] (in French). Rev Neurol. (Paris) 159 (10 Pt 1): 892–9. PMID 14615678. http://www.masson.fr/masson/MDOI-RN-10-2003-159-10-C1-0035-3787-101019-ART7. 
  8. ^ 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. http://www.neurology.org/cgi/pmidlookup?view=long&pmid=11342690. 
  9. ^ 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. 
  10. ^ 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. 
  11. ^ 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. 
  12. ^ 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. 
  13. ^ Foncke EMJ, Schuurman PR, Speelman JD (2006). "Suicide after deep brain stimulation of the internal globus pallidus for dystonia". Neurology 22 (1): 142–143. 

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