About: myoclonic dystonia

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dystonia characterized by myoclonic jerks affecting mostly proximal muscles and dystonia, usually torticollis or writer's cramp, that typically responds to alcohol and has onset in the first of second decade of life

Attributes	Values
rdf:type	Item
owl:sameAs	myoclonic dystonia
description	dystonia characterized by myoclonic jerks affecting mostly proximal muscles and dystonia, usually torticollis or writer's cramp, that typically responds to alcohol and has onset in the first of second decade of life (en)
exact match	wds:Q3710440-C30EFA9B-C0DF-48CB-91F3-70A953ADF3F0 wds:Q3710440-FA057491-219D-47E6-888B-D95AB052C606
exact match	http://purl.obolibrary.org/obo/DOID_0090033 http://identifiers.org/doid/DOID:0090033
DiseasesDB	wds:Q3710440-8F7FFF0E-BAAA-4486-ADD3-9EB5E0B16335
Disease Ontology ID	wds:Q3710440-0B612815-61F1-430C-981F-D3125CB7F876
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0090033
DiseasesDB	31321
Disease Ontology ID	DOID:0090033
rdfs:label	Distonia mioclonica (it) distonía mioclónica (es) dystonie myoclonique (fr) myoclonic dystonia (en) Миоклоническая дистония (ru) خلل التوتر العضلي الرمعي (ar) 筋クローヌス性ジストニア (ja)
skos:prefLabel	Distonia mioclonica (it) distonía mioclónica (es) dystonie myoclonique (fr) myoclonic dystonia (en) Миоклоническая дистония (ru) خلل التوتر العضلي الرمعي (ar) 筋クローヌス性ジストニア (ja)
name	Distonia mioclonica (it) distonía mioclónica (es) dystonie myoclonique (fr) myoclonic dystonia (en) Миоклоническая дистония (ru) خلل التوتر العضلي الرمعي (ar) 筋クローヌス性ジストニア (ja)
instance of	wds:Q3710440-2255170E-1093-4D71-BD8C-32DE5B6651D5 wds:Q3710440-D3A391EE-B3E5-4454-AAAC-2A0D112D8F16
instance of	class of disease rare disease
subclass of	wds:Q3710440-594CF6EE-87FD-4187-9519-5289C6943B81 wds:Q3710440-EA33935B-9851-44EA-9B33-5B5DBF80582A
subclass of	dystonia myoclonus
Orphanet ID	wds:Q3710440-A2BD9096-0B42-4691-885D-E07B937A24BD
genetic association	wds:Q3710440-EEDAAE6A-DCF5-4076-98FC-4DE717D95F98
PatientsLikeMe condition ID	wds:Q3710440-0e6a16a6-4695-f14c-99d0-08b99a45647f
GARD rare disease ID	wds:Q3710440-60EE553A-8332-4660-ABBA-BEBA1855D59B
OMIM ID	wds:Q3710440-B20F93B4-63F7-4138-89A3-64591440787D
GeneReviews ID	wds:Q3710440-34333388-CE62-4551-A429-24375CA803DD
Genetics Home Reference Conditions ID	wds:Q3710440-2DFB8635-D113-41A8-8BC8-FA9122BD3876
Orphanet ID	36899
genetic association	SGCE
PatientsLikeMe condition ID	myoclonic-dystonia
GARD rare disease ID	7139
OMIM ID	159900
GeneReviews ID	NBK1414
Genetics Home Reference Conditions ID	myoclonus-dystonia
skos:altLabel	Myoclonus-dystonia (en) Миоклонус-дистония (ru)
BabelNet ID	wds:Q3710440-8841FC03-2B9B-4D6A-84A9-CFE369A36DAC
on focus list of Wikimedia project	wds:Q3710440-1ABFCB8B-72EA-429C-A8B9-98B751B5F3D0
Microsoft Academic ID	wds:Q3710440-0317D6E6-A48E-4695-99C2-973944FE66A5
ICD-11 (foundation)	wds:Q3710440-0bb62f5e-45df-e76b-0ab7-2b550f451c1c
BabelNet ID	http://babelnet.org/rdf/s01369221n
Microsoft Academic ID	https://makg.org/entity/2777546433
BabelNet ID	01369221n
on focus list of Wikimedia project	WikiProject Medicine
Microsoft Academic ID	2777546433
ICD-11 (foundation)	1047919249
SNOMED CT ID	wds:Q3710440-8C7E73BE-C6E1-4548-9ADB-C19A8F891A11
SNOMED CT ID	http://snomed.info/id/439732004
SNOMED CT ID	439732004
is owl:sameAs of	myoclonic dystonia myoclonic dystonia
is about of	myoclonic dystonia https://www.wikidata.org/wiki/Special:EntityData/Q3710440 Myoclonic dystonia https://ru.wikipedia.org/wiki/%D0%9C%D0%B8%D0%BE%D0%BA%D0%BB%D0%BE%D0%BD%D0%B8%D1%87%D0%B5%D1%81%D0%BA%D0%B0%D1%8F_%D0%B4%D0%B8%D1%81%D1%82%D0%BE%D0%BD%D0%B8%D1%8F https://fr.wikipedia.org/wiki/Dystonie_myoclonique https://it.wikipedia.org/wiki/Distonia_mioclonica https://ar.wikipedia.org/wiki/%D8%AE%D9%84%D9%84_%D8%A7%D9%84%D8%AA%D9%88%D8%AA%D8%B1_%D8%A7%D9%84%D8%B9%D8%B6%D9%84%D9%8A_%D8%A7%D9%84%D8%B1%D9%85%D8%B9%D9%8A
is subclass of of	myoclonic dystonia 15 myoclonic dystonia 11 myoclonic dystonia 26
is subclass of of	wds:Q32038779-68BBCA13-A19E-4248-AC09-B680F072CB84 wds:Q32038778-1E152D51-754C-40AB-91F0-65856D00D725 wds:Q30989223-988EA99B-A54E-4FCF-BA5E-0889471F16E6
is main subject of	SGCE missense mutations that cause myoclonus-dystonia syndrome impair epsilon-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA Treatment of myoclonus-dystonia syndrome with tetrabenazine SGCE isoform characterization and expression in human brain: implications for myoclonus-dystonia pathogenesis? The neurophysiological features of myoclonus-dystonia and differentiation from other dystonias Localization of a gene for myoclonus-dystonia to chromosome 7q21-q31 Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome Inherited Myoclonus-dystonia syndrome: narrowing the 7q21-q31 locus in German families Inherited myoclonus-dystonia: evidence supporting genetic heterogeneity Alcohol-responsive myoclonic dystonia in a large family: dominant inheritance and phenotypic variation Myoclonus and tremor response to thalamic deep brain stimulation parameters in a patient with inherited myoclonus-dystonia syndrome Focal myoclonus-dystonia of the leg secondary to a lesion of the posterolateral putamen: clinical and neurophysiological features. Myoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotype Pallidal stimulation relieves myoclonus-dystonia syndrome. Deep brain stimulation in myoclonus-dystonia syndrome. Involvement of the medial pallidum in focal myoclonic dystonia: A clinical and neurophysiological case study.

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