FTSD
MCID: FCL022
MIFTS: 48

Focal Dystonia (FTSD) malady

Rare diseases, Neuronal diseases categories
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Summaries for Focal Dystonia

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8Disease Ontology, 21Genetics Home Reference, 43NIH Rare Diseases, 65Wikipedia, 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 parkinson's disease. An important gene associated with Focal Dystonia is TOR1A (torsin family 1, member A (torsin A)), and among its related pathways are Monoamine GPCRs and Alpha-synuclein signaling. The compounds cis flupentixol and (+)-butaclamol have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and skin, and related mouse phenotypes are muscle and behavior/neurological.

Disease Ontology:8 A dystonia that is localized to a specific part of the body.

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:65 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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8Disease Ontology, 43NIH Rare Diseases, 21Genetics Home Reference, 45Novoseek, 62UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Neuronal diseases


Aliases & Descriptions:

focal dystonia 8 43 45 62
occupational dystonia 21 62
ftsd 43 21
dystonia, focal, task-specific 62
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


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Disease Ontology8 DOID:0050836

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 74)
idRelated DiseaseScoreTop Affiliating Genes
1blepharospasm30.6DRD5, TOR1A
2parkinson's disease30.4PARK2, DRD2
3torsion dystonia30.3TOR1A
4obsessive-compulsive disorder30.1SGCE, DRD2
5dystonia11.2
6hemifacial spasm10.4
7cervical dystonia10.3
8cerebritis10.3
9ataxia10.3
10tremor10.3
11autosomal dominant focal dystonia, dyt7 type10.3
12oromandibular dystonia10.2
13cervicitis10.2
14spinocerebellar ataxia10.2
15chorea10.2
16dystonia 2510.2
17thoracic outlet syndrome10.2
18germinoma10.2
19myoclonus10.2
20pathological gambling10.1DRD2
21substance abuse10.1DRD2
22nicotine dependence10.1DRD2
23gilles de la tourette syndrome10.1DRD5, DRD2
24leprosy10.1HLA-DRB1
25substance dependence10.1DRD2, DRD5
26conduct disorder10.1DRD2, DRD5
27myoclonus-dystonia10.1TOR1A, SGCE
28generalized dystonia10.1SGCE, TOR1A
29alcohol dependence10.1DRD2
30movement disease10.1TOR1A, SGCE
31attention deficit hyperactivity disorder10.0DRD2, DRD5
32narcolepsy10.0HLA-DRB1, DRD2
33migraine10.0DRD2, DRD5
34multiple system atrophy10.0PARK2, DRD2
35oculogyric crisis10.0
36focal hand dystonia10.0
37spasmodic dystonia10.0
38spinal stenosis10.0
39central pontine myelinolysis10.0
40localized scleroderma10.0
41siderosis10.0
42creutzfeldt-jakob disease10.0
43wilson disease10.0
44ulnar neuropathy10.0
45restless legs syndrome10.0
46cerebellar ataxia10.0
47cranio-facial dystonia10.0
48focal epilepsy10.0
49neuropathy10.0
50scleroderma10.0

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



Diseases related to focal dystonia

Symptoms for Focal Dystonia

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Drugs & Therapeutics for Focal Dystonia

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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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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33MalaCards
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MalaCards organs/tissues related to Focal Dystonia:

33
Brain, Cortex, Skin

Animal Models for Focal Dystonia or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Focal Dystonia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.3SGCE, PARK2, DRD2, NDUFS4
2MP:00053868.3NDUFS4, DRD2, TOR1A, PARK2, SGCE
3MP:00036317.9SGCE, PARK2, TOR1A, DRD5, DRD2, NDUFS4
4MP:00053857.8NDUFS4, TBP, DRD2, DRD5, PARK2, SGCE

Publications for Focal Dystonia

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52PubMed
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Articles related to Focal Dystonia:

(show top 50)    (show all 184)
idTitleAuthorsYear
1
Finger-specific loss of independent control of movements in musicians with focal dystonia. (23707706)
2013
2
Diagnosis and treatment of abductor hallucis focal dystonia with botulinum toxin injection: a case presentation. (23953019)
2013
3
Musicians' social representations of health and illness: a qualitative case study about focal dystonia. (22246303)
2012
4
Steroid-responsive focal epilepsy with focal dystonia accompanied by glutamate receptor delta2 antibody. (22613698)
2012
5
Focal dystonia in musicians: phenomenology, pathophysiology, triggering factors, and treatment. (20795373)
2010
6
Quality of sleep in primary focal dystonia: a case-control study. (20039936)
2010
7
Focal dystonia in musicians: phenomenology, pathophysiology and triggering factors. (20590806)
2010
8
Changes in short afferent inhibition during phasic movement in focal dystonia. (18061936)
2008
9
Results by motor cortex stimulation in treatment of focal dystonia, Parkinson's disease and post-ictal spasticity. The experience of the Italian Study Group of the Italian Neurosurgical Society. (18642628)
2008
10
Abnormal vibration-induced illusion of movement in idiopathic focal dystonia: an endophenotypic marker? (18044715)
2008
11
Etiological musculo-skeletal factor in focal dystonia in a musician's hand: A case study of the right hand of a guitarist. (17659635)
2007
12
Botulinum neurotoxin type A free of complexing proteins (XEOMIN) in focal dystonia. (17385940)
2007
13
Morphometric changes of sensorimotor structures in focal dystonia. (17443700)
2007
14
Paroxysmal focal dystonia with sensory symptoms secondary to cortical oligoastrocytoma. (16598615)
2006
15
Focal dystonia in musicians. (17097479)
2006
16
Kinesthesia is impaired in focal dystonia. (16482525)
2006
17
Animal models of focal dystonia. (16389315)
2005
18
Abnormal co-contraction in yips-affected but not unaffected golfers: evidence for focal dystonia. (15911823)
2005
19
Focal dystonia is associated with a polymorphism of the dopamine D5 receptor gene. (14509667)
2004
20
Quantification of focal dystonia in pianists using scale analysis. (14978672)
2004
21
Musician's focal dystonia. (12852672)
2003
22
Focal dystonia: advances in brain imaging and understanding of fine motor control in musicians. (12945651)
2003
23
The effect of fatigue on abnormal vibration induced illusion of movement in idiopathic focal dystonia. (12876261)
2003
24
I've recently had to stop writing in my journal because my right hand tightens and twists when I try to write. My doctor says it's a focal dystonia. Are there treatments? (14971354)
2003
25
Prevalence of primary late-onset focal dystonia in the Belgrade population. (14639690)
2003
26
The 'yips' in golf: a continuum between a focal dystonia and choking. (12477375)
2003
27
Obsessive compulsive disorder among idiopathic focal dystonia patients: an epidemiological and family study. (12208643)
2002
28
Botulinum toxin treatment in atypical parkinsonian disorders associated with disabling focal dystonia. (11993530)
2002
29
Impaired brain GABA in focal dystonia. (11782988)
2002
30
Reversible chorea and focal dystonia in vitamin B12 deficiency. (12140313)
2002
31
Abnormalities of sensorimotor integration in focal dystonia: a transcranial magnetic stimulation study. (11222454)
2001
32
The GAG deletion of the DYT1 gene is infrequent in musicians with focal dystonia. (11087801)
2000
33
Movement-related electroencephalographic desynchronization in patients with hand cramps: evidence for motor cortical involvement in focal dystonia. (10762156)
2000
34
Operative management of foot and ankle equinovarus associated with focal dystonia. (9578102)
1998
35
Mitochondrial DNA in focal dystonia: a cybrid analysis. (9708550)
1998
36
Long-latency reflexes of hand muscles in idiopathic focal dystonia and their modification by botulinum toxin. (9126053)
1997
37
Frequency of familial inheritance among 488 index patients with idiopathic focal dystonia and clinical variability in a large family. (9399227)
1997
38
A primate model for studying focal dystonia and repetitive strain injury: effects on the primary somatosensory cortex. (9062569)
1997
39
Focal dystonia secondary to superficial siderosis. (8813232)
1996
40
Biomechanical abnormalities in musicians with occupational cramp/focal dystonia. (8124444)
1993
41
Focal dystonia secondary to cavernous angioma of the basal ganglia: case report and review of the literature. (8327084)
1993
42
Delayed-onset focal dystonia after diffuse cerebral hypoxia--two case reports. (8179837)
1993
43
Writer's cramp--a focal dystonia: etiology, diagnosis, and treatment. (8515033)
1993
44
Botulinum toxin treatment in patients with focal dystonia and hemifacial spasm. A multicenter study of the Italian Movement Disorder Group. (8354632)
1993
45
Severely mutilating focal dystonia in an adolescent. (21927397)
1989
46
The "yips": a focal dystonia of golfers. (2915788)
1989
47
Acquired focal dystonia following recovery from central pontine myelinolysis. (3225594)
1988
48
Localized injections of botulinum toxin for the treatment of focal dystonia and hemifacial spasm. (3400513)
1988
49
Focal dystonia of the jaw and the differential diagnosis of unilateral jaw and masticatory spasm. (3734821)
1986
50
Focal dystonia in association with cerebral infarction. (7175538)
1982

Variations for Focal Dystonia

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Expression for genes affiliated with Focal Dystonia

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2BioGPS, 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

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50PathCards, 38NCBI BioSystems Database, 55Reactome, 30KEGG
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Pathways related to Focal Dystonia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.8DRD2, DRD5
29.8PARK2, TOR1A
3
Show member pathways
8.8TBP, DRD2, HLA-DRB1
4
Show member pathways
8.5NDUFS4, TBP, DRD2, PARK2

Compounds for genes affiliated with Focal Dystonia

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29IUPHAR, 45Novoseek, 51PharmGKB, 11DrugBank, 24HMDB
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Compounds related to Focal Dystonia according to GeneCards/GeneDecks:

(show all 33)
idCompoundScoreTop Affiliating Genes
1cis flupentixol2910.2DRD5, DRD2
2(+)-butaclamol45 2911.2DRD2, DRD5
3zuclopenthixol45 51 1112.2DRD2, DRD5
4rotigotine29 45 1112.2DRD5, DRD2
5fluphenazine29 45 51 1113.1DRD2, DRD5
6spiperone45 2911.1DRD2, DRD5
7methylphenidate45 51 1112.1DRD5, DRD2
8ropinirole45 1111.1DRD2, DRD5
9thioridazine29 45 51 1113.1DRD5, DRD2
10lisuride45 29 1112.1DRD5, DRD2
11pergolide45 29 1112.1DRD2, DRD5
12pramipexole45 29 51 1113.1DRD2, DRD5
13ketanserin45 2911.1DRD5, DRD2
14cabergoline45 29 1112.1DRD2, DRD5
15aripiprazole29 45 51 24 1114.1DRD2, DRD5
16ziprasidone29 51 45 1113.0DRD2, DRD5
17apomorphine29 45 1112.0DRD2, DRD5
18quetiapine45 51 29 24 1113.9DRD2, DRD5
19chlorpromazine29 45 51 1112.9DRD5, DRD2
20bromocriptine45 29 1111.8DRD5, DRD2
21olanzapine45 51 29 24 1113.8DRD2, DRD5
221 methyl 4 phenylpyridinium459.8NDUFS4, PARK2
236-hydroxydopamine459.5PARK2, DRD2, NDUFS4
24mptp459.5NDUFS4, DRD2, PARK2
25rotenone459.4NDUFS4, PARK2
26norepinephrine45 24 1111.4DRD5, DRD2, NDUFS4
27levodopa45 1110.2NDUFS4, DRD2, DRD5, PARK2
28dopamine45 29 24 1111.8PARK2, TOR1A, DRD5, DRD2, NDUFS4
29iron45 249.8PARK2, TBP, NDUFS4
30glutamate458.6HLA-DRB1, TOR1A, DRD2, NDUFS4
31tyrosine458.5HLA-DRB1, TIMM8A, PARK2, TOR1A, DRD5
32lysine458.4TBP, PARK2, HLA-DRB1
33atp45 299.3NDUFS4, TBP, PARK2, HLA-DRB1

GO Terms for genes affiliated with Focal Dystonia

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16Gene Ontology
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Cellular components related to Focal Dystonia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1integral component of plasma membraneGO:0058878.5DRD2, DRD5, SGCE, HLA-DRB1

Biological processes related to Focal Dystonia according to GeneCards/GeneDecks:

(show all 11)
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
6chaperone mediated protein folding requiring cofactorGO:0510859.9TOR1A, TOR1B
7negative regulation of blood pressureGO:0457769.8DRD2, DRD5
8cellular calcium ion homeostasisGO:0068749.8DRD2, DRD5
9response to amphetamineGO:0019759.7DRD5, DRD2
10reactive oxygen species metabolic processGO:0725939.5DRD5, NDUFS4
11response to unfolded proteinGO:0069869.4TOR1B, TOR1A

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

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

Products for genes affiliated with Focal Dystonia

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Sources for Focal Dystonia

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4CDC
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23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
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37MGI
40NCIt
41NDF-RT
44NINDS
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48OMIM via Orphanet
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59SNOMED-CT via Orphanet
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