Details of Disease

General Information of Disease (ID: DIS26D7O)

Disease Name	Focal dystonia
Disease Class	8A02: Dystonic disorder
Definition	A dystonia that is localized to a specific part of the body.
Disease Hierarchy	DISJLFGW: Dystonia DIS26D7O: Focal dystonia
ICD Code	ICD-11 ICD-11: 8A02.1
Disease Identifiers	MONDO ID MONDO_0000477 MESH ID D020821 UMLS CUI C0743332 MedGen ID 149279 HPO ID HP:0004373 SNOMED CT ID 445006008

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 1 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Carisbamate	DM4Y1SP	Phase 3	Small molecular drug	[1]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ALDH5A1	TTJUWVB	Strong	Biomarker	[2]
GCH1	TTLSWP6	Strong	Biomarker	[3]
GLRA1	TTF45NW	Strong	Biomarker	[4]
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This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PRKRA	OTUTVZZU	Disputed	Biomarker	[5]
GNAL	OTESDTEU	Strong	Biomarker	[6]
THAP1	OTIWUSON	Strong	Genetic Variation	[7]
ARSG	OTT7TDW7	Definitive	Genetic Variation	[8]
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References

1	Progress report on new antiepileptic drugs: a summary of the Ninth Eilat Conference (EILAT IX). Epilepsy Res. 2009 Jan;83(1):1-43.
2	Vigabatrin improves paroxysmal dystonia in succinic semialdehyde dehydrogenase deficiency. Neurology. 2007 Apr 17;68(16):1320-1. doi: 10.1212/01.wnl.0000259537.54082.6d.
3	The genetics of primary dystonias and related disorders.Brain. 2002 Apr;125(Pt 4):695-721. doi: 10.1093/brain/awf090.
4	Hyperekplexia phenotype of glycine receptor alpha1 subunit mutant mice identifies Zn(2+) as an essential endogenous modulator of glycinergic neurotransmission.Neuron. 2006 Nov 22;52(4):679-90. doi: 10.1016/j.neuron.2006.09.035.
5	DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA. Lancet Neurol. 2008 Mar;7(3):207-15. doi: 10.1016/S1474-4422(08)70022-X. Epub 2008 Feb 1.
6	Mutations in GNAL cause primary torsion dystonia. Nat Genet. 2013 Jan;45(1):88-92. doi: 10.1038/ng.2496. Epub 2012 Dec 9.
7	Lack of association between TOR1A and THAP1 mutations and sporadic adult-onset primary focal dystonia in a Chinese population.Clin Neurol Neurosurg. 2016 Mar;142:26-30. doi: 10.1016/j.clineuro.2016.01.018. Epub 2016 Jan 12.
8	Lack of Association of the rs11655081 ARSG Gene with Blepharospasm.J Mol Neurosci. 2019 Mar;67(3):472-476. doi: 10.1007/s12031-018-1255-3. Epub 2019 Jan 18.