Focal Dystonia malady

Genetics Home Reference: Task-specific focal dystonia is a movement disorder that interferes with the performance of particular tasks, such as writing, playing a musical instrument, or participating in a sport. Dystonias are a group of movement problems characterized by involuntary, sustained muscle contractions, tremors, and other uncontrolled movements. The term "focal" refers to a type of dystonia that affects a single part of the body, such as the hand or jaw.¹⁷

MalaCards: Focal Dystonia, also known as FTSD, is related to cervical dystonia and limb dystonia. An important gene associated with Focal Dystonia is TOR1A (torsin family 1, member A (torsin A)), and among its related pathways is Amine ligand-binding receptors. The compounds Carphenazine and zuclopenthixol have been mentioned in the context of this disorder.

Wikipedia: Focal dystonia is a neurological condition that affects a muscle or group of muscles in a specific part...⁴⁴ more...

focal dystonia 30 32 43 ftsd 30 17 focal task specific dystonia 30 task-specific focal dystonia 17

focal task-specific dystonia 17 occupational dystonia 17 focal hand dystonia 17 occupational cramp 17

Diseases related to focal dystonia by text searches and GeneDecks gene sharing:

(show all 50)

id	Related Disease	Score	Top Affiliating Genes
1	cervical dystonia	28.4	HLA-DRB1, DRD5
2	limb dystonia	13.3	TIMM8A, TOR1A
3	myoclonus-dystonia	13.2	SGCE, TOR1A
4	early-onset primary dystonia (dyt1)	13.1	SGCE, TOR1A
5	pathological gambling	13.1	DRD2, DRD5
6	torsion dystonia	13.1	TOR1A, TOR1B
7	familial dystonia	13.1	SGCE, TOR1A
8	sepiapterin reductase deficiency	13.1	PARK2, DRD2
9	blepharospasm	13.0	TIMM8A, TOR1A, DRD5
10	migraine without aura	12.9	DRD2, DRD5
11	attention deficit hyperactivity disorder	12.8	DRD2, DRD5
12	gilles de la tourette syndrome	12.8	DRD5, DRD2, SGCE
13	obsessive-compulsive disorder	12.8	TOR1A, SGCE, DRD2
14	cramps	12.8	PARK2, TOR1A, SGCE
15	lewy body dementia	12.7	PARK2, NDUFS4
16	tremor	12.7	SGCE, PARK2, DRD2
17	bipolar affective disorder	12.7	TBP, DRD5, DRD2
18	restless legs syndrome	12.6	PARK2, TBP, DRD2
19	hypersomnia	12.6	HLA-DRB1, PARK2
20	leprosy	12.6	HLA-DRB1, PARK2
21	mental retardation syndrome	12.6	PARK2, DRD2, TIMM8A
22	spinocerebellar ataxia type 3	12.6	TBP, PARK2
23	tourette syndrome	12.5	DRD2, SGCE, TOR1A, DRD5
24	progressive supranuclear palsy	12.5	NDUFS4, PARK2, DRD2
25	wolfram syndrome	12.5	HLA-DRB1, DRD5
26	supranuclear palsy	12.5	PARK2, DRD2, NDUFS4
27	movement disease	12.5	SGCE, PARK2, DRD2, TOR1A
28	myoclonus	12.5	DRD2, TOR1A, PARK2, SGCE
29	mitochondrial encephalomyopathy	12.4	TIMM8A, NDUFS4
30	olivopontocerebellar atrophy	12.4	SGCE, TBP, DRD2
31	complex regional pain syndrome	12.4	SGCE, DRD2
32	paine syndrome	12.2	DRD2, HLA-DRB1, SGCE
33	multiple system atrophy	12.0	NDUFS4, TBP, DRD2, PARK2
34	huntington's disease	11.9	DRD5, NDUFS4, TBP, DRD2
35	blindness	11.9	DRD2, DRD5, HLA-DRB1, TIMM8A
36	parkinson's disease	11.8	TOR1A, NDUFS4, DRD2, PARK2, TBP
37	hypersensitivity reaction type ii disease	11.8	PARK2, HLA-DRB1, DRD2, TBP
38	neurodegenerative disease	11.7	NDUFS4, TBP, DRD2, TIMM8A, PARK2
39	neurodegeneration	11.7	DRD2, TIMM8A, NDUFS4, TBP, PARK2
40	bipolar disorder	11.6	HLA-DRB1, DRD2, NDUFS4, DRD5
41	autism spectrum disorder	11.5	NDUFS4, PARK2, DRD5, DRD2, HLA-DRB1
42	twinning	11.3	NDUFS4, TIMM8A, SGCE, HLA-DRB1, DRD2
43	dementia	10.9	NDUFS4, TBP, TIMM8A, HLA-DRB1, DRD2, PARK2
44	hepatocellular carcinoma	10.7	HLA-DRB1, SGCE, TBP, PARK2, TOR1A, TOR1B
45	schizophrenia	10.7	DRD2, TBP, DRD5, NDUFS4, HLA-DRB1, SGCE
46	cerebritis	10.6	DRD5, PARK2, NDUFS4, HLA-DRB1, DRD2, TOR1A
47	alzheimer's disease	10.3	CIZ1, NDUFS4, DRD5, HLA-DRB1, DRD2, TBP
48	ataxia	6.2
49	mohr-tranebjaerg syndrome	6.2
50	spinocerebellar ataxia	6.2

Approved drugs:

Drug clinical trials:

Articles related to focal dystonia:

(show all 11)

id	Title	Authors	Year	Affiliating Genes
1	Genetic evidence for an association of the TOR1A locu s with segmental/focal dystonia. (20669276)	Sharma N.... Ozelius L.J.	2010	TOR1A, TOR1B
2	Clinical and genetic characterization of a large Dutch family with primary focal dystonia. (18823044)	Contarino M.F.... Tijssen M.A.	2008	SGCE
3	Clinical and genetic evaluation in a French population presenting with primary focal dystonia. (15726581)	Dhaenens C.M.... SablonniA"re B.	2005	TOR1A
4	Focal dystonia is associated with a polymorphism of the dopamine D5 receptor gene. (14509667)	Misbahuddin A.... Warner T.T.	2004	DRD5
5	Focal dystonia caused by Mohr-Tranebjaerg syndrome with complete deletion of the DDP1 gene. (15037720)	Pizzuti A.... Berardelli A.	2004	TIMM8A
6	Focal dystonia as a presenting sign of spinocerebellar ataxia 17. (14978680)	Hagenah J.M.... Klein C.	2004	TBP
7	Candidate gene studies in focal dystonia. (14581671)	Sibbing D.... Bandmann O.	2003	DRD5, HLA-DRB1, TOR1A
8	The GAG deletion of the DYT1 gene is infrequent in musicians with focal dystonia. (11087801)	Friedman J.R.... Charness M.E.	2000	TOR1A
9	Mitochondrial DNA in focal dystonia: a cybrid analysis. (9708550)	Tabrizi S.J.... Schapira A.H.	1998	NDUFS4
10	Search for a founder mutation in idiopathic focal dystonia from Northern Germany. (9837831)	Klein C.... Vieregge P.	1998	TOR1A
11	Striatal [11C]-N-methyl-spiperone binding in patients with focal dystonia (torticollis) using positron emission tomography. (8101445)	Leenders K.... LAYngstrAPm B.	1993	DRD2

Genes related to focal dystonia according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	TOR1A	torsin family 1, member A (torsin A)	11.0	Publications
2	TIMM8A	translocase of inner mitochondrial membrane 8 homolog A (yeast)	11.0	Publications
3	DRD5	dopamine receptor D5	11.0	Publications
4	DRD2	dopamine receptor D2	11.0	Publications
5	PARK2	parkinson protein 2, E3 ubiquitin protein ligase (parkin)	11.0
6	TOR1B	torsin family 1, member B (torsin B)	11.0	Publications
7	SGCE	sarcoglycan, epsilon	11.0	Publications
8	TBP	TATA box binding protein	11.0	Publications
9	NDUFS4	NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)	11.0	Publications
10	HLA-DRB1	major histocompatibility complex, class II, DR beta 1	11.0	Publications

Pathways related to focal dystonia according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Amine ligand-binding receptors38	9.8	DRD2, DRD5

Compounds related to focal dystonia according to GeneDecks:

(show all 19)

id	Compound	Score	Top Affiliating Genes
1	Carphenazine9 9	11.1	DRD5, DRD2
2	zuclopenthixol32 34 9 9	13.0	DRD5, DRD2
3	rotigotine32 9 9	12.0	DRD5, DRD2
4	methylphenidate32 9 9	12.0	DRD5, DRD2
5	lisuride32 9 9	12.0	DRD2, DRD5
6	ropinirole32 9 9	12.0	DRD5, DRD2
7	pergolide32 9 9	12.0	DRD5, DRD2
8	Methotrimeprazine9 9	10.9	DRD5, DRD2
9	pramipexole32 9 9	11.9	DRD2, DRD5
10	cabergoline32 9 9	11.8	DRD2, DRD5
11	aripiprazole32 34 9 18 9	13.8	DRD2, DRD5
12	quetiapine32 9 18 9	12.8	DRD5, DRD2
13	ziprasidone32 9 9	11.7	DRD5, DRD2
14	apomorphine32 9 9	11.5	DRD5, DRD2
15	1 methyl 4 phenylpyridinium32	9.4	PARK2, NDUFS4
16	6-hydroxydopamine32	9.2	PARK2, DRD2, NDUFS4
17	mptp32	9.2	PARK2, DRD2, NDUFS4
18	levodopa32 9 9	10.9	PARK2, NDUFS4, DRD5, DRD2
19	dopamine32 9 18 9	11.5	PARK2, TOR1A, NDUFS4, DRD5, DRD2

Biological processes related to focal dystonia according to GeneDecks:

(show all 10)

id	Name	GO ID	Score	Top Affiliating Genes
1	phospholipase C-activating dopamine receptor signaling pathway	GO:060158	10.0	DRD2, DRD5
2	nuclear membrane organization	GO:071763	9.9	TOR1B, TOR1A
3	synaptic transmission, dopaminergic	GO:001963	9.9	DRD2, DRD5
4	chaperone mediated protein folding requiring cofactor	GO:051085	9.9	TOR1A, TOR1B
5	response to cocaine	GO:042220	9.9	DRD2, DRD5
6	regulation of long-term neuronal synaptic plasticity	GO:048169	9.8	DRD5, DRD2
7	negative regulation of blood pressure	GO:045776	9.8	DRD5, DRD2
8	visual learning	GO:008542	9.8	DRD5, DRD2
9	response to amphetamine	GO:001975	9.7	DRD5, DRD2
10	reactive oxygen species metabolic process	GO:072593	9.0	DRD5, NDUFS4

Molecular functions related to focal dystonia according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	dopamine binding	GO:035240	9.8	DRD2, DRD5