FTSD
MCID: FCL022
MIFTS: 41

Focal Dystonia (FTSD) malady

Summaries for Focal Dystonia

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 33MalaCards
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NIH Rare Diseases:43 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 blepharospasm and spinocerebellar ataxia. 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 skin, brain and cortex.

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

Aliases & Classifications for Focal Dystonia

Sources:
43NIH Rare Diseases, 45Novoseek, 61UMLS, 21Genetics Home Reference
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Aliases & Descriptions:

focal dystonia 43 45 61
occupational dystonia 21 61
ftsd 43 21
dystonia, focal, task-specific 61
focal task specific dystonia 43
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

Sources:
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 62)
idRelated DiseaseScoreTop Affiliating Genes
1blepharospasm30.3TOR1A, DRD5
2spinocerebellar ataxia30.2TBP
3myoclonus-dystonia30.2SGCE, TOR1A
4torsion dystonia30.1TOR1A
5restless legs syndrome30.0DRD2
6parkinson's disease30.0DRD2, PARK2
7obsessive-compulsive disorder30.0SGCE, DRD2
8hemifacial spasm10.4
9cervical dystonia10.3
10ataxia10.3
11tremor10.3
12autosomal dominant focal dystonia, dyt7 type10.3
13limb dystonia10.2
14chorea10.2
15dystonia 2510.2
16thoracic outlet syndrome10.2
17germinoma10.2
18myoclonus10.2
19ulnar neuropathy10.0
20spinal stenosis10.0
21central pontine myelinolysis10.0
22localized scleroderma10.0
23siderosis10.0
24idiopathic familial dystonia10.0
25wilson disease10.0
26brain disease10.0
27toxoplasmosis10.0
28spasmodic dysphonia10.0
29dystonia 110.0
30dystonia 1910.0
31oligoastrocytoma10.0
32brain injury10.0
33cerebral hypoxia10.0
34chronic pain10.0
35hypoxia10.0
36repetitive motion disorders10.0
37spasticity10.0
38traumatic brain injury10.0
39blepharospasm, primary benign10.0
40superficial siderosis10.0
41x-linked reticulate pigmentary disorder with systemic manifestations10.0
42oromandibular dystonia10.0
43pathological gambling10.0DRD2
44blindness10.0TIMM8A
45gilles de la tourette syndrome10.0DRD5, DRD2
46multiple system atrophy10.0DRD2, PARK2
47bipolar disorder10.0DRD2, DRD5
48familial dystonia10.0SGCE, TOR1A
49movement disease10.0SGCE, TOR1A
50attention deficit hyperactivity disorder10.0DRD5, DRD2

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



Diseases related to focal dystonia

Clinical Features for Focal Dystonia

Drugs & Therapeutics for Focal Dystonia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Focal Dystonia

Drug clinical trials:

Search ClinicalTrials for Focal Dystonia

Search NIH Clinical Center for Focal Dystonia

Search CenterWatch for Focal Dystonia

Genetic Tests for Focal Dystonia

Anatomical Context for Focal Dystonia

Sources:
33MalaCards
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MalaCards organs/tissues related to Focal Dystonia:

33
Skin, Brain, Cortex, Skeletal muscle

Animal Models for Focal Dystonia or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Focal Dystonia

Sources:
51PubMed
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Articles related to Focal Dystonia:

(show top 50)    (show all 207)
idTitleAuthorsYear
1
Connectivity patterns of pallidal DBS electrodes in focal dystonia: a diffusion tensor tractography study. (24045076)
2014
2
Diagnosis and treatment of abductor hallucis focal dystonia with botulinum toxin injection: a case presentation. (23953019)
2013
3
Sensory tricks in focal dystonia and hemifacial spasm. (23216586)
2013
4
Focal dystonia of right hand with mirror movements upon use of left arm. (23673180)
2013
5
A model of task-specific focal dystonia. (23892909)
2013
6
Focal dystonia in musicians: linking motor symptoms to somatosensory dysfunction. (23805090)
2013
7
Musicians' social representations of health and illness: a qualitative case study about focal dystonia. (22246303)
2012
8
Treatment of focal dystonia. (22415705)
2012
9
Obsessive-compulsive-spectrum symptoms in patients with focal dystonia, hemifacial spasm, and healthy subjects. (22450617)
2012
10
Nonmotor symptoms in adult-onset focal dystonia: psychiatric abnormalities. (21442656)
2011
11
Loss of topographic specificity of LTD-like plasticity is a trait marker in focal dystonia. (21126584)
2011
12
Botulinum toxin A (DysportAr): in dystonias and focal spasticity. (21668041)
2011
13
Long-term treatment effects of sensory motor retuning in a pianist with focal dystonia. (21695359)
2011
14
Somatosensory temporal discrimination in patients with primary focal dystonia. (19541688)
2009
15
Clinical improvement of secondary focal limb dystonia in neurodegenerative disease following a five-day lidocaine infusion: a case report. (19013587)
2009
16
Quality of life in patients with focal dystonia. (18995953)
2009
17
Focal brain glucose hypermetabolism in myoclonus-dystonia syndrome caused by an epsilon-sarcoglycan gene mutation. (19261534)
2009
18
Focal hand dystonia in a patient with PANK2 mutation. (18074375)
2008
19
Abnormal plasticity of sensorimotor circuits extends beyond the affected body part in focal dystonia. (17634214)
2008
20
Etiological musculo-skeletal factor in focal dystonia in a musician's hand: A case study of the right hand of a guitarist. (17659635)
2007
21
Adult-onset lower extremity focal dystonia: case reports. (17559775)
2007
22
Kinesthesia is impaired in focal dystonia. (16482525)
2006
23
Facial recognition in primary focal dystonia. (16114021)
2006
24
Abnormal co-contraction in yips-affected but not unaffected golfers: evidence for focal dystonia. (15911823)
2005
25
Focal dystonia in musicians: treatment strategies and long-term outcome in 144 patients. (16078237)
2005
26
Anxiety in musicians with focal dystonia and those with chronic pain. (15390020)
2004
27
Focal dystonia as a presenting sign of spinocerebellar ataxia 17. (14978680)
2004
28
Limb cooling and focal dystonia. (14978687)
2004
29
Focal dystonia: advances in brain imaging and understanding of fine motor control in musicians. (12945651)
2003
30
Task specific focal dystonia: a presentation of spinocerebellar ataxia type 6. (14570846)
2003
31
Focal dystonia in a professional musician. (12926762)
2003
32
Botulinum toxin treatment in atypical parkinsonian disorders associated with disabling focal dystonia. (11993530)
2002
33
Copper genes are not implicated in the pathogenesis of focal dystonia. (12221184)
2002
34
Focal dystonia: the role of botulinum toxin. (11898539)
2001
35
Focal dystonia: current theories. (11792445)
2001
36
Assessment of postexcitatory inhibition in patients with focal dystonia. (10510687)
1999
37
Focal hand dystonia in a patient with thoracic outlet syndrome. (9703190)
1998
38
Operative management of foot and ankle equinovarus associated with focal dystonia. (9578102)
1998
39
Questionable role of adult-onset focal dystonia among sporadic dystonia patients. (9851449)
1998
40
Focal dystonia and repetitive motion disorders. (9646753)
1998
41
Anatomical factors predisposing to focal dystonia in the musician's hand--principles, theoretical examples, clinical significance. (9239545)
1997
42
Focal dystonia in a musician. (11440536)
1997
43
Sporadic focal dystonia in northwest Germany: molecular basis on chromosome 18p. (9225692)
1997
44
Focal dystonia after chemotherapy: a case series. (9210064)
1997
45
Striatal [11C]-N-methyl-spiperone binding in patients with focal dystonia (torticollis) using positron emission tomography. (8101445)
1993
46
Focal dystonia following soft tissue injury: three case reports with long-term outcome. (2327891)
1990
47
Botulinum toxin treatment of cranial-cervical dystonia, spasmodic dysphonia, other focal dystonias and hemifacial spasm. (2213039)
1990
48
Severely mutilating focal dystonia in an adolescent. (21927397)
1989
49
Focal dystonia in association with cerebral infarction. (7175538)
1982
50
Anticholinergics in adult-onset focal dystonia. (7116238)
1982

Genetic Variations for Focal Dystonia

Expression for genes affiliated with Focal Dystonia

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

Search GEO for disease gene expression data for Focal Dystonia.

Pathways for genes affiliated with Focal Dystonia

Sources:
54Reactome, 38NCBI 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

Sources:
11DrugBank, 29IUPHAR, 45Novoseek, 50PharmGKB, 24HMDB
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Compounds related to Focal Dystonia according to GeneCards/GeneDecks:

(show all 30)
idCompoundScoreTop Affiliating Genes
1Carphenazine1110.2DRD2, DRD5
2cis flupentixol2910.2DRD2, DRD5
3zuclopenthixol45 50 1112.2DRD5, DRD2
4(+)-butaclamol29 4511.2DRD5, DRD2
5rotigotine45 29 1112.2DRD2, DRD5
6fluphenazine29 45 1112.2DRD5, DRD2
7spiperone29 4511.1DRD5, DRD2
8methylphenidate45 50 1112.1DRD2, DRD5
9ropinirole45 1111.1DRD2, DRD5
10thioridazine29 45 50 1113.1DRD5, DRD2
11lisuride29 45 1112.1DRD2, DRD5
12pergolide29 45 1112.1DRD5, DRD2
13pramipexole45 50 29 1113.1DRD2, DRD5
14Methotrimeprazine1110.1DRD2, DRD5
15ketanserin29 4511.0DRD2, DRD5
16cabergoline29 45 1112.0DRD5, DRD2
17aripiprazole29 50 45 11 2414.0DRD5, DRD2
18ziprasidone50 29 45 1113.0DRD2, DRD5
19apomorphine45 29 1112.0DRD2, DRD5
20quetiapine45 50 29 11 2413.9DRD5, DRD2
211 methyl 4 phenylpyridinium459.9NDUFS4, PARK2
22chlorpromazine45 29 50 1112.8DRD2, DRD5
23bromocriptine29 45 1111.7DRD2, DRD5
246-hydroxydopamine459.6NDUFS4, DRD2, PARK2
25mptp459.6NDUFS4, DRD2, PARK2
26levodopa45 1110.3DRD2, PARK2, DRD5, NDUFS4
27norepinephrine45 11 2411.3DRD5, NDUFS4, DRD2
28rotenone459.3NDUFS4, PARK2
29dopamine45 29 11 2412.0PARK2, TOR1A, NDUFS4, DRD2, DRD5
30glutamate458.8NDUFS4, TOR1A, HLA-DRB1, DRD2

GO Terms for genes affiliated with Focal Dystonia

Sources:
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:06015810.0DRD5, DRD2
2synaptic transmission, dopaminergicGO:00196310.0DRD2, DRD5
3associative learningGO:0083069.9DRD5, DRD2
4response to cocaineGO:0422209.9DRD2, DRD5
5nuclear membrane organizationGO:0717639.9TOR1A, TOR1B
6chaperone mediated protein folding requiring cofactorGO:0510859.8TOR1B, TOR1A
7negative regulation of blood pressureGO:0457769.8DRD5, DRD2
8response to amphetamineGO:0019759.7DRD5, DRD2
9response to unfolded proteinGO:0069869.7TOR1A, TOR1B
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

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet