筋緊張異常の、ジストニアの

関: dystonia、dystonic disorder

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2014/04/21 23:12:43」(JST)

wiki en

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] Treatment is difficult and has been limited to minimizing the symptoms of the disorder, since there is no cure available.

History

The term "dystonia" was first used in 1911, by Hermann Oppenheim.^[2]

Classification

Types of dystonia

Generalized
Focal
Segmental
Sexual
Intermediate
Psychogenic
Acute Dystonic Reaction^[3]
Vegetative-vascular

Generalized dystonias

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 article: Focal dystonia

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

Name	Location	Description
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 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. 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.

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 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

Symbol	OMIM	Gene	Locus	Alt Name
DYT1	128100	TOR1A	9q34	Early-onset torsion dystonia
DYT2	224500	unknown	unknown	Autosomal recessive torsion dystonia
DYT3	314250	TAF1	Xq13	X-linked dystonia-parkinsonism
DYT4	128101	TUBB4^[4]	19p13.12-13	Autosomal dominant whispering dysphonia
DYT5a	128230	GCH1	14q22.1-q22.2	Autosomal dominant dopamine-responsive dystonia
DYT5b	191290	TH^{[disambiguation needed]}	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
DYT11	159900	SGCE	7q21	Myoclonic dystonia
DYT12	128235	ATP1A3	19q12-q13.2	Rapid onset dystonia parkinsonism and alternating hemiplegia of childhood
DYT13	607671	unknown, near D1S2667^[5]	1p36.32-p36.13	Autosomal dominant cranio-cervical/upper limb dystonia in one Italian family
DYT14	See DYT5
DYT15	607488	unknown	18p11^[6]	Myoclonic dystonia not linked to SGCE mutations
DYT16	612067	PRKRA	2q31.3	Autosomal recessive young onset dystonia parkinsonism
DYT17	612406	unknown, near D20S107^[7]	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
DYT24	610110	ANO3^[8]	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.^[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

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, in particular 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.^[13]

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.^{[citation needed]}

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.^{[citation needed]}

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.^{[citation needed]}

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.^{[citation needed]}

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.^[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. It 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.^{[citation needed]}

Secondary dystonia refers to dystonia brought on by some identified cause, usually involving brain damage, or by some unidentified cause such as chemical imbalance.^{[citation needed]} Some cases of (particularly focal) dystonia are brought on after trauma,^{[citation needed]} are induced by certain drugs (tardive dystonia), or may be the result of diseases of the nervous system such as Wilson's disease.^{[citation needed]}

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.^{[citation needed]} Chlorpromazine can also cause dystonia, which can be often misjudged as a seizure.^{[citation needed]} Neuroleptic drugs often cause dystonia, including oculogyric crisis.^{[citation needed]}

Misfunction 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.^[15] 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. Indeed, an ouabain block of Na+
-K+
pumps in the cerebellum of a live mouse results in it displaying ataxia and dystonia.^[16] 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.^[17] The parkinsonism aspect of this disease is thought to be attributable to malfunctioning Na+
-K+
pumps in the basal ganglia; the dystonia aspect is thought to be attributable to malfunctioning Na+
-K+
pumps in the cerebellum (that act to corrupt its input to the basal ganglia) - possibly in Purkinje neurons.^[15]

Treatment

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.^{[citation needed]} Various treatments focus on sedating brain functions or blocking nerve communications with the muscles via drugs, neuro-suppression, or denervation.^{[citation needed]} All current treatments have negative side-effects and risks.

Physical intervention

While research in the area of effectiveness of physical therapy intervention for dystonia remains weak,^[18] there is reason to believe that rehabilitation will benefit patients with dystonia.^[19] Physical therapy can be utilized to manage changes in balance, mobility and overall function that occur as a result of the disorder.^[20] A variety of treatment strategies can be employed to address the unique needs of each individual. Potential treatment interventions include splinting,^[21] therapeutic exercise, manual stretching, soft tissue and joint mobilization, postural training and bracing,^[19] neuromuscular electrical stimulation, constraint-induced movement therapy, activity and environmental modification, and gait training.^[20]

A patient with dystonia may have significant challenges in activities of daily living (ADL), an area especially suited for treatment by occupational therapy (OT). An occupational therapist (OT) may perform needed upper extremity splinting, provide movement inhibitory techniques, train fine motor coordination, provide an assistive device, or teach alternative methods of activity performance to achieve a patient's goals for bathing, dressing, toileting, and other valued activities.

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.^[22] 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.^[23]

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.^[22] To date, focal cervical dystonia has received the most research attention;^[20] however, study designs are poorly controlled and limited to small sample sizes.^[18]

Medication

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 bromocriptine), and muscle relaxants (such as diazepam).

Anticholinergics

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).^{[citation needed]}

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.^[24]

Botulin 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 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 a Type B toxin approved for treatment of dystonia; often, those that develop resistance to Type A may be able to use Type B.^[25]

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.^{[citation needed]}

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 does not remove the condition, it does alleviate the symptoms most of the time. (In contrast, dopamine antagonists can sometimes cause dystonia.)^{[citation needed]}

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 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.^[26] 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.^[27]

References

^ ^a ^b Dystonia fact sheet: National Institute of Neurological Disorders and Stroke
^ Tarsy, Daniel; Simon, David K. (24 Aug 2006). "Dystonia". New England Journal of Medicine 355 (8): 818–829. doi:10.1056/NEJMra055549. PMID 16928997. Cite uses deprecated parameters (help)
^ http://www.emsvillage.com/articles/article.cfm?id=1137
^ Hersheson, Joshua; Mencacci, Niccolo E.; Davis, Mary; MacDonald, Nicola; Trabzuni, Daniah; Ryten, Mina; Pittman, Alan; Paudel, Reema; Kara, Eleanna; Fawcett, Katherine; Plagnol, Vincent; Bhatia, Kailash P.; Medlar, Alan J.; Stanescu, Horia C.; Hardy, John; Kleta, Robert; Wood, Nicholas W.; Houlden, Henry (2013). "Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia". Annals of Neurology 73 (4): 546–553. doi:10.1002/ana.23832. PMC 3698699. PMID 23424103.
^ Valente, Enza Maria; Bentivoglio, Anna Rita; Cassetta, Emanuele; Dixon, Peter H.; Davis, Mary B.; Ferraris, Alessandro; Ialongo, Tamara; Frontali, Marina; Wood, Nicholas W.; Albanese, Alberto (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". Annals of Neurology 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. doi:10.1212/WNL.59.8.1183. PMID 12391345.
^ Chouery, E.; Kfoury, J.; Delague, V.; Jalkh, N.; Bejjani, P.; Serre, J. L.; Mégarbané, A. (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, Gavin; Plagnol, Vincent; Holmström, Kira M.; Bras, Jose; Sheerin, Una-Marie; Preza, Elisavet; Rubio-Agusti, Ignacio; Ryten, Mina; Schneider, Susanne A.; Stamelou, Maria; Trabzuni, Daniah; Abramov, Andrey Y.; Bhatia, Kailash P.; Wood, Nicholas W. (2012). "Mutations in ANO3 Cause Dominant Craniocervical Dystonia: Ion Channel Implicated in Pathogenesis". The American Journal of Human Genetics 91 (6): 1041–50. doi:10.1016/j.ajhg.2012.10.024. PMC 3516598. PMID 23200863.
^ Cassim F (Oct 2003). "Les dystonies myocloniques" [Myoclonic dystonia]. Revue Neurologique (in French) 159 (10 Pt 1): 892–9. PMID 14615678.
^ Vidailhet, M.; Tassin, J.; Durif, F.; Nivelon-Chevallier, A.; Agid, Y.; Brice, A.; Dürr, A. (2001). "A major locus for several phenotypes of myoclonus-dystonia on chromosome 7q". Neurology 56 (9): 1213–6. doi:10.1212/WNL.56.9.1213. PMID 11342690.
^ Fuchs T, Ozelius LJ (2013) Genetics in dystonia: an update. Curr Neurol Neurosci Rep 13(12) 410. doi:10.1007/s11910-013-0410-z
^ 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 (2013) SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia. Neurogenetics
^ 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.
^ ^a ^b Louis, Elan D.; Lee, Peter; Quinn, Lori; Marder, Karen (1999). "Dystonia in Huntington's disease: Prevalence and clinical characteristics". Movement Disorders 14 (1): 95–101. doi:10.1002/1531-8257(199901)14:1<95::AID-MDS1016>3.0.CO;2-8. PMID 9918350.
^ ^a ^b Forrest MD, Wall MJ, Press DA, Feng J (December 2012). "The Sodium-Potassium Pump Controls the Intrinsic Firing of the Cerebellar Purkinje Neuron". PLoS ONE 7 (12): e51169. doi:10.1371/journal.pone.0051169. PMC 3527461. PMID 23284664.
^ Calderon DP, Fremont R, Kraenzlin F, Khodakhah K (March 2011). "The neural substrates of rapid-onset Dystonia-Parkinsonism". Nature Neuroscience 14 (3): 357–65. doi:10.1038/nn.2753. PMC 3430603. PMID 21297628.
^ Cannon C (July 2004). "Paying the Price at the Pump: Dystonia from Mutations in a Na+/K+-ATPase". Neuron 43 (2): 153–154. doi:10.1016/j.neuron.2004.07.002. PMID 15260948.
^ ^a ^b Crowner, B. E (2007). "Cervical Dystonia: Disease Profile and Clinical Management". Physical Therapy 87 (11): 1511–26. doi:10.2522/ptj.20060272. PMID 17878433.
^ ^a ^b Lubarr, Naomi; Bressman, Susan (2011). "Treatment of Generalized Dystonia". Current Treatment Options in Neurology 13 (3): 274–89. doi:10.1007/s11940-011-0122-0. PMID 21455718.
^ ^a ^b ^c 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. ISBN 978-1-933864-62-4. OCLC 429666586.
^ 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. doi:10.1212/WNL.57.3.405. PMID 11502904.
^ ^a ^b 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. Cite uses deprecated parameters (help)
^ Zetterberg, Lena; Halvorsen, Kjartan; Färnstrand, Catarina; Aquilonius, Sten-Magnus; Lindmark, Birgitta (2008). "Physiotherapy in cervical dystonia: Six experimental single-case studies". Physiotherapy Theory and Practice 24 (4): 275–90. doi:10.1080/09593980701884816. PMID 18574753.
^ 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. Cite uses deprecated parameters (help)
^ Brin, M. F.; Lew, M. F.; Adler, C. H.; Comella, C. L.; Factor, S. A.; Jankovic, J.; O'Brien, C.; Murray, J. J.; Wallace, J. D.; 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. doi:10.1212/WNL.53.7.1431. PMID 10534247.
^ Bittar, Richard G.; Yianni, John; Wang, Shouyan; Liu, Xuguang; Nandi, Dipankar; Joint, Carole; Scott, Richard; Bain, Peter G.; Gregory, Ralph; Stein, John; Aziz, Tipu Z. (2005). "Deep brain stimulation for generalised dystonia and spasmodic torticollis". Journal of Clinical Neuroscience 12 (1): 12–6. doi:10.1016/j.jocn.2004.03.025. PMID 15639404.
^ Foncke, E.M.J.; Schuurman, P. R.; Speelman, J. D. (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.

External links

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

UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

1. ジストニアの治療 treatment of dystonia
2. ジストニアの分類および評価 classification and evaluation of dystonia
3. 心因性不随意運動 psychogenic movement disorders
4. 遅発性ジスキネジア：臨床的特徴および診断 tardive dyskinesia clinical features and diagnosis
5. ウィルソン病：臨床症状、診断、および自然史 wilson disease clinical manifestations diagnosis and natural history

English Journal

Effects of noradrenergic denervation by anti-DBH-saporin on behavioral responsivity to l-DOPA in the hemi-parkinsonian rat.

Ostock CY1, Lindenbach D2, Goldenberg AA3, Kampton E4, Bishop C5.
Behavioural brain research.Behav Brain Res.2014 Aug 15;270:75-85. doi: 10.1016/j.bbr.2014.05.009. Epub 2014 May 13.
Dopamine (DA) replacement with l-DOPA remains the most effective pharmacotherapy for motor symptoms of Parkinson's disease (PD) including tremor, postural instability, akinesia, and bradykinesia. Prolonged l-DOPA use frequently leads to deleterious side effects including involuntary choreic and dyst
PMID 24837745

[Alternating hemiplegia of childhood: ATP1A3 gene analysis in 16 patients].

Ulate-Campos A1, Fons C2, Campistol J2, Martorell L3, Cancho-Candela R4, Eiris J5, López-Laso E6, Pineda M7, Sans A8, Velázquez R9.
Medicina clínica.Med Clin (Barc).2014 Jul 7;143(1):25-8. doi: 10.1016/j.medcli.2014.01.036. Epub 2014 Apr 24.
BACKGROUND AND OBJECTIVE: Alternating hemiplegia in childhood (AHC) is a disease characterized by recurrent episodes of hemiplegia, tonic or dystonic crisis and abnormal ocular movements. Recently, mutations in the ATP1A3 gene have been identified as the causal mechanism of AHC. The objective is to
PMID 24768197

Clinical spectrum of dopa-responsive dystonia and related disorders.

Lee WW1, Jeon BS.
Current neurology and neuroscience reports.Curr Neurol Neurosci Rep.2014 Jul;14(7):461. doi: 10.1007/s11910-014-0461-9.
Dopa-responsive dystonia (DRD) has a classic presentation of childhood or adolescent-onset dystonia, mild parkinsonism, marked diurnal fluctuations, improvement with sleep or rest, and a dramatic and sustained response to low doses of L-dopa without motor fluctuations or dyskinesias. However, there
PMID 24844652

Japanese Journal

GPi-DBSが奏効したtardive dystoniaの1例

尾形衣美,小倉光博,西林宏起,佐々木貴浩,垣下浩二,中尾直之
Japanese Journal of Neurosurgery 23(4), 348-353, 2014
49歳女性. 25歳より躁うつ病と不眠症のため抗うつ剤や睡眠薬を多量に服用していた. 7年前より頚, 体幹にtardive dystoniaが出現し徐々に増悪した. 内科的治療はいずれも無効であった. ジストニアによりADLが強く障害されていたので, 全身麻酔下にて, 両側のGPi-DBSを行った. 頚部, 体幹のジストニア運動は術後早期から著明に軽減し, その後7カ月の経過で徐々にジストニア姿 …
NAID 130003397715

症例報告 Faciobrachial dystonic seizureで初発したくすぶり型の抗leucine-rich glioma-inactivated 1 (LGI1)抗体陽性辺縁系脳炎の1例

中奥由里子,眞木崇州,金澤恭子 [他]
臨床神経学 53(9), 706-711, 2013-09
NAID 40019800456

Faciobrachial dystonic seizureで初発したくすぶり型の抗leucine-rich glioma-inactivated 1（LGI1）抗体陽性辺縁系脳炎の1例

中奥由里子,眞木崇州,金澤恭子,松本理器,福山秀直,高橋良輔,池田昭夫
臨床神経学 53(9), 706-711, 2013
… 増加し，性格変化と近時記憶障害をともなった．頭部MRIは左扁桃体から左海馬のFLAIR高信号域を示した．同部位と両側基底核はFDG-PETで糖代謝亢進を示した．全身検索で悪性腫瘍はなかった．血清・髄液の抗leucinerich glioma-inactivated 1（LGI1）抗体陽性で，faciobrachial dystonic seizureをともなう抗LGI1抗体陽性辺縁系脳炎と診断した．カルバマゼピンで発作は抑制され，さらにステロイド療法で，画像所見，記憶障害は改善した． …
NAID 130004505549

Related Pictures

★リンクテーブル★

拡張検索	「dystonic disorder」

「dystonic disorder」

Dystonias
	Classification and external resources
	; A person with medication induced dystonia.
ICD-10	G24.9
ICD-9	333
OMIM	128100 224500 314250 128101 128230 602629 602124 118800 601042 128200 159900 128235 607671 607488 612067 612406 612126 611031 611147
DiseasesDB	17912
MeSH	D004421
GeneReviews	Dystonia Overview; Early-Onset Primary Dystonia (DYT1);

　　[★]

筋緊張異常疾患、ジストニア

関: adult-onset dystonia、dystonia、dystonic、focal dystonia、primary dystonia、psychogenic dystonia、secondary dystonia、writer's cramp

[NINDS-1] Dystonia fact sheet: National Institute of Neurological Disorders and Stroke

[Tarsy-2] Tarsy, Daniel; Simon, David K. (24 Aug 2006). "Dystonia". New England Journal of Medicine 355 (8): 818–829. doi:10.1056/NEJMra055549. PMID 16928997. Cite uses deprecated parameters (help)

[emsvillage.com-3] ttp://www.emsvillage.com/articles/article.cfm?id=1137

[DYT4-4] Hersheson, Joshua; Mencacci, Niccolo E.; Davis, Mary; MacDonald, Nicola; Trabzuni, Daniah; Ryten, Mina; Pittman, Alan; Paudel, Reema; Kara, Eleanna; Fawcett, Katherine; Plagnol, Vincent; Bhatia, Kailash P.; Medlar, Alan J.; Stanescu, Horia C.; Hardy, John; Kleta, Robert; Wood, Nicholas W.; Houlden, Henry (2013). "Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia". Annals of Neurology 73 (4): 546–553. doi:10.1002/ana.23832. PMC 3698699. PMID 23424103.

[pmid11261511-5] Valente, Enza Maria; Bentivoglio, Anna Rita; Cassetta, Emanuele; Dixon, Peter H.; Davis, Mary B.; Ferraris, Alessandro; Ialongo, Tamara; Frontali, Marina; Wood, Nicholas W.; Albanese, Alberto (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". Annals of Neurology 49 (3): 362–6. doi:10.1002/ana.73. PMID 11261511.

[pmid12391345-6] 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. doi:10.1212/WNL.59.8.1183. PMID 12391345.

[pmid18688663-7] Chouery, E.; Kfoury, J.; Delague, V.; Jalkh, N.; Bejjani, P.; Serre, J. L.; Mégarbané, A. (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.

[DYT23-8] Charlesworth, Gavin; Plagnol, Vincent; Holmström, Kira M.; Bras, Jose; Sheerin, Una-Marie; Preza, Elisavet; Rubio-Agusti, Ignacio; Ryten, Mina; Schneider, Susanne A.; Stamelou, Maria; Trabzuni, Daniah; Abramov, Andrey Y.; Bhatia, Kailash P.; Wood, Nicholas W. (2012). "Mutations in ANO3 Cause Dominant Craniocervical Dystonia: Ion Channel Implicated in Pathogenesis". The American Journal of Human Genetics 91 (6): 1041–50. doi:10.1016/j.ajhg.2012.10.024. PMC 3516598. PMID 23200863.

[9] Cassim F (Oct 2003). "Les dystonies myocloniques" [Myoclonic dystonia]. Revue Neurologique (in French) 159 (10 Pt 1): 892–9. PMID 14615678.

[10] Vidailhet, M.; Tassin, J.; Durif, F.; Nivelon-Chevallier, A.; Agid, Y.; Brice, A.; Dürr, A. (2001). "A major locus for several phenotypes of myoclonus-dystonia on chromosome 7q". Neurology 56 (9): 1213–6. doi:10.1212/WNL.56.9.1213. PMID 11342690.

[Fuchs2013-11] Fuchs T, Ozelius LJ (2013) Genetics in dystonia: an update. Curr Neurol Neurosci Rep 13(12) 410. doi:10.1007/s11910-013-0410-z

[12] 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 (2013) SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia. Neurogenetics

[13] 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-14] Louis, Elan D.; Lee, Peter; Quinn, Lori; Marder, Karen (1999). "Dystonia in Huntington's disease: Prevalence and clinical characteristics". Movement Disorders 14 (1): 95–101. doi:10.1002/1531-8257(199901)14:1<95::AID-MDS1016>3.0.CO;2-8. PMID 9918350.

[Forrest_MD.2C_Wall_MJ.2C_Press_DA.2C_Feng_J_e51169-15] Forrest MD, Wall MJ, Press DA, Feng J (December 2012). "The Sodium-Potassium Pump Controls the Intrinsic Firing of the Cerebellar Purkinje Neuron". PLoS ONE 7 (12): e51169. doi:10.1371/journal.pone.0051169. PMC 3527461. PMID 23284664.

[16] Calderon DP, Fremont R, Kraenzlin F, Khodakhah K (March 2011). "The neural substrates of rapid-onset Dystonia-Parkinsonism". Nature Neuroscience 14 (3): 357–65. doi:10.1038/nn.2753. PMC 3430603. PMID 21297628.

[17] Cannon C (July 2004). "Paying the Price at the Pump: Dystonia from Mutations in a Na+/K+-ATPase". Neuron 43 (2): 153–154. doi:10.1016/j.neuron.2004.07.002. PMID 15260948.

[Crowner-18] Crowner, B. E (2007). "Cervical Dystonia: Disease Profile and Clinical Management". Physical Therapy 87 (11): 1511–26. doi:10.2522/ptj.20060272. PMID 17878433.

[Lubarr-19] Lubarr, Naomi; Bressman, Susan (2011). "Treatment of Generalized Dystonia". Current Treatment Options in Neurology 13 (3): 274–89. doi:10.1007/s11940-011-0122-0. PMID 21455718.

[myers-20] 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. ISBN 978-1-933864-62-4. OCLC 429666586.

[Priori-21] 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. doi:10.1212/WNL.57.3.405. PMID 11502904.

[Kawamichi-22] 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. Cite uses deprecated parameters (help)

[Zetterberg-23] Zetterberg, Lena; Halvorsen, Kjartan; Färnstrand, Catarina; Aquilonius, Sten-Magnus; Lindmark, Birgitta (2008). "Physiotherapy in cervical dystonia: Six experimental single-case studies". Physiotherapy Theory and Practice 24 (4): 275–90. doi:10.1080/09593980701884816. PMID 18574753.

[PDBook-24] 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. Cite uses deprecated parameters (help)

[BtxB-25] Brin, M. F.; Lew, M. F.; Adler, C. H.; Comella, C. L.; Factor, S. A.; Jankovic, J.; O'Brien, C.; Murray, J. J.; Wallace, J. D.; 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. doi:10.1212/WNL.53.7.1431. PMID 10534247.

[DBS-26] Bittar, Richard G.; Yianni, John; Wang, Shouyan; Liu, Xuguang; Nandi, Dipankar; Joint, Carole; Scott, Richard; Bain, Peter G.; Gregory, Ralph; Stein, John; Aziz, Tipu Z. (2005). "Deep brain stimulation for generalised dystonia and spasmodic torticollis". Journal of Clinical Neuroscience 12 (1): 12–6. doi:10.1016/j.jocn.2004.03.025. PMID 15639404.

[DBS_Suicide-27] Foncke, E.M.J.; Schuurman, P. R.; Speelman, J. D. (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.

匿名

検索

案内

案内

dystonic