FTSD
MCID: FCL022
MIFTS: 30

Focal Dystonia (FTSD) malady

Summaries for Focal Dystonia

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42NIH Rare Diseases, 21Genetics Home Reference, 63Wikipedia, 32MalaCards
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NIH Rare Diseases:42 Focal dystonia is a movement disorder that is localized to a specific part of the body. the dystonias are a group of movement problems characterized by involuntary, sustained muscle contractions, tremors, and other uncontrolled movements. focal task-specific dystonia, or ftsd, interferes with the performance of particular tasks, such as writing, playing a musical instrument, or participating in a sport. additionally, ftsd has been reported in tailors, shoemakers, hair stylists, and people who frequently type or use a computer mouse. while the abnormal movements associated with focal dystonia are usually painless, they can cause high levels of anxiety. the causes of focal dystonia are unknown, although the disorder likely results from a combination of genetic and environmental factors. it is possible that the different forms of ftsd have different underlying causes. researchers have found that at least some cases are related to malfunction of the basal ganglia, which are structures deep within the brain that help start and control movement. most cases of focal dystonia are sporadic, which means they occur in people with no history of the condition in their family. however, at least 10 percent of affected individuals have a family history which seems to follow an autosomal dominant pattern of inheritance. last updated: 9/11/2013

MalaCards: Focal Dystonia, also known as occupational dystonia, is related to familial dystonia and blepharospasm. An important gene associated with Focal Dystonia is TIMM8A (translocase of inner mitochondrial membrane 8 homolog A (yeast)), and among its related pathways are Dopamine receptors and Alpha-synuclein signaling. The compounds Carphenazine and cis flupentixol have been mentioned in the context of this disorder. Affiliated tissues include brain.

Genetics Home Reference:21 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.

Wikipedia:63 Focal dystonia is a neurological condition that affects a muscle or group of muscles in a specific part... more...

Aliases & Classifications for Focal Dystonia

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42NIH Rare Diseases, 44Novoseek, 60UMLS, 21Genetics Home Reference
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Aliases & Descriptions:

focal dystonia 42 44 60
occupational dystonia 21 60
ftsd 42 21
dystonia, focal, task-specific 60
focal task specific dystonia 42
focal task-specific dystonia 21
task-specific focal dystonia 21
task-specific dystonia 21
focal hand dystonia 21
occupational cramp 21


Related Diseases for Focal Dystonia

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17GeneCards, 18GeneDecks
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Diseases related to Focal Dystonia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 52)
idRelated DiseaseScoreTop Affiliating Genes
1familial dystonia30.5SGCE, TOR1A
2blepharospasm30.3TOR1A, DRD5
3parkinson's disease30.2PARK2, DRD2
4spinocerebellar ataxia30.2TBP
5restless legs syndrome30.0DRD2
6obsessive-compulsive disorder30.0DRD2, SGCE
7cerebritis10.2
8autosomal dominant focal dystonia, dyt7 type10.2
9idiopathic familial dystonia10.1
10cervicitis10.1
11dystonia 2510.1
12thoracic outlet syndrome10.1
13ulnar neuropathy10.0
14spinal stenosis10.0
15central pontine myelinolysis10.0
16localized scleroderma10.0
17siderosis10.0
18wilson disease10.0
19brain disease10.0
20cerebellar ataxia10.0
21focal epilepsy10.0
22neuropathy10.0
23scleroderma10.0
24toxoplasmosis10.0
25vitamin b12 deficiency10.0
26spinocerebellar ataxia type 610.0
27cervical dystonia10.0
28limb dystonia10.0
29blepharospasm, primary benign10.0
30x-linked reticulate pigmentary disorder with systemic manifestations10.0
31oromandibular dystonia10.0
32torsion dystonia10.0TOR1A
33pathological gambling10.0DRD2
34blindness10.0TIMM8A
35gilles de la tourette syndrome10.0DRD5, DRD2
36multiple system atrophy10.0DRD2, PARK2
37bipolar disorder10.0DRD5, DRD2
38myoclonus-dystonia10.0TOR1A, SGCE
39movement disease10.0TOR1A, SGCE
40attention deficit hyperactivity disorder10.0DRD5, DRD2
41substance dependence10.0DRD5, DRD2
42migraine10.0DRD5, DRD2
43hepatocellular carcinoma10.0PARK2, HLA-DRB1
44huntington's disease10.0TBP, DRD2
45dementia10.0TIMM8A, TBP, PARK2
46spinocerebellar ataxia type 310.0TBP
47lewy body dementia10.0NDUFS4, PARK2
48progressive supranuclear palsy10.0PARK2, DRD2, NDUFS4
49mitochondrial disorders10.0NDUFS4, TIMM8A
50hypersensitivity reaction type ii disease10.0DRD2, HLA-DRB1, TBP, PARK2

Graphical network of the top 20 diseases related to Focal Dystonia:



Diseases related to focal dystonia

Clinical Features for Focal Dystonia

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Drugs & Therapeutics for Focal Dystonia

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Focal Dystonia

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Anatomical Context for Focal Dystonia

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32MalaCards
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MalaCards organs/tissues related to Focal Dystonia:

32
Brain

Animal Models for Focal Dystonia or affiliated genes

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Publications for Focal Dystonia

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Genetic Variations for Focal Dystonia

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Expression for genes affiliated with Focal Dystonia

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Focal Dystonia

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Pathways for genes affiliated with Focal Dystonia

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53Reactome, 37NCBI BioSystems Database
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Pathways related to Focal Dystonia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8DRD5, DRD2
29.8PARK2, TOR1A

Compounds for genes affiliated with Focal Dystonia

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11DrugBank, 28IUPHAR, 44Novoseek, 49PharmGKB, 24HMDB
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Compounds related to Focal Dystonia according to GeneCards/GeneDecks:

(show all 30)
idCompoundScoreTop Affiliating Genes
1Carphenazine1110.2DRD5, DRD2
2cis flupentixol2810.2DRD2, DRD5
3zuclopenthixol44 49 1112.2DRD5, DRD2
4(+)-butaclamol28 4411.2DRD5, DRD2
5rotigotine44 28 1112.2DRD5, DRD2
6fluphenazine28 44 1112.2DRD2, DRD5
7spiperone28 4411.1DRD5, DRD2
8methylphenidate44 49 1112.1DRD5, DRD2
9ropinirole44 1111.1DRD5, DRD2
10thioridazine28 44 49 1113.1DRD2, DRD5
11lisuride28 44 1112.1DRD2, DRD5
12pergolide28 44 1112.1DRD5, DRD2
13Methotrimeprazine1110.1DRD2, DRD5
14pramipexole44 49 28 1113.1DRD2, DRD5
15ketanserin28 4411.0DRD5, DRD2
16cabergoline28 44 1112.0DRD2, DRD5
17aripiprazole28 49 44 11 2414.0DRD5, DRD2
18ziprasidone49 28 44 1113.0DRD2, DRD5
19apomorphine44 28 1112.0DRD5, DRD2
20quetiapine44 49 28 11 2413.9DRD5, DRD2
211 methyl 4 phenylpyridinium449.8NDUFS4, PARK2
22bromocriptine28 44 1111.8DRD2, DRD5
23chlorpromazine44 28 49 1112.7DRD2, DRD5
246-hydroxydopamine449.6PARK2, DRD2, NDUFS4
25mptp449.6NDUFS4, DRD2, PARK2
26levodopa44 1110.3PARK2, DRD5, DRD2, NDUFS4
27norepinephrine44 11 2411.3DRD5, DRD2, NDUFS4
28rotenone449.3PARK2, NDUFS4
29dopamine44 28 11 2412.0NDUFS4, DRD2, DRD5, TOR1A, PARK2
30glutamate448.8NDUFS4, DRD2, HLA-DRB1, TOR1A

GO Terms for genes affiliated with Focal Dystonia

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16Gene Ontology
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Biological processes related to Focal Dystonia according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1phospholipase C-activating dopamine receptor signaling pathwayGO:06015810.0DRD2, DRD5
2synaptic transmission, dopaminergicGO:00196310.0DRD5, DRD2
3associative learningGO:0083069.9DRD2, DRD5
4response to cocaineGO:0422209.9DRD5, DRD2
5nuclear membrane organizationGO:0717639.9TOR1B, TOR1A
6negative regulation of blood pressureGO:0457769.8DRD2, DRD5
7chaperone mediated protein folding requiring cofactorGO:0510859.8TOR1B, TOR1A
8response to amphetamineGO:0019759.7DRD2, DRD5
9response to unfolded proteinGO:0069869.7TOR1B, TOR1A
10reactive oxygen species metabolic processGO:0725939.3DRD5, NDUFS4

Molecular functions related to Focal Dystonia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1dopamine bindingGO:0352409.8DRD5, DRD2

Products for genes affiliated with Focal Dystonia

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Sources for Focal Dystonia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
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57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet