Details of Disease | DrugMAP

General Information of Disease (ID: DISYK06B)

Disease Name	Myoclonus-dystonia syndrome
Synonyms	myoclonus-dystonia; myoclonus-Dystonia; myoclonus, hereditary essential; dystonia-11, myoclonic; dystonia, alcohol-responsive; dystonia, alcohol responsive; dystonia 11, myoclonic; dystonia 11; alcohol-responsive dystonia; Hereditary essential myoclonus; DYT11; myoclonus-dystonia syndrome; myoclonic dystonia; hereditary essential myoclonus; dystonia with myoclonus; DYT-SGCE
Definition	Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks.
Disease Hierarchy	DISD44TL: Combined dystonia DISYK06B: Myoclonus-dystonia syndrome

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KCTD17	OTESMJSS	Supportive	Autosomal dominant	[1]
SGCE	OT9F17JB	Supportive	Autosomal dominant	[2]
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References

1	A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia. Am J Hum Genet. 2015 Jun 4;96(6):938-47. doi: 10.1016/j.ajhg.2015.04.008. Epub 2015 May 14.
2	Clinical Practice Guidelines for Rare Diseases: The Orphanet Database. PLoS One. 2017 Jan 18;12(1):e0170365. doi: 10.1371/journal.pone.0170365. eCollection 2017.