FTSD
MCID: FCL022
MIFTS: 49

Focal Dystonia (FTSD) malady

Rare diseases, Neuronal diseases categories
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Summaries for Focal Dystonia

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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 based summary: Focal Dystonia, also known as focal task-specific dystonia, is related to blepharospasm and torsion dystonia. 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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Focal Dystonia, Aliases & Descriptions:

Name: Focal Dystonia 8 42 44 62
Focal Task-Specific Dystonia 21 62
Task-Specific Dystonia 21 62
Occupational Dystonia 21 62
Focal Hand Dystonia 21 62
 
Occupational Cramp 21 62
Ftsd 42 21
Dystonia, Focal, Task-Specific 62
Task-Specific Focal Dystonia 21
Focal Task Specific Dystonia 42


Classifications:

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


External Ids:

Disease Ontology8 DOID:0050836

Related Diseases for Focal Dystonia

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

(show top 50)    (show all 76)
idRelated DiseaseScoreTop Affiliating Genes
1blepharospasm31.1TOR1A, DRD5
2torsion dystonia30.9TOR1A
3parkinson's disease30.7PARK2, DRD2
4obsessive-compulsive disorder30.4DRD2, SGCE
5dystonia11.2
6pathological gambling10.4DRD2
7hemifacial spasm10.4
8substance abuse10.4DRD2
9nicotine dependence10.4DRD2
10cervical dystonia10.3
11gilles de la tourette syndrome10.3DRD2, DRD5
12leprosy10.3HLA-DRB1
13substance dependence10.3DRD2, DRD5
14conduct disorder10.3DRD2, DRD5
15cerebritis10.3
16ataxia10.3
17tremor10.3
18autosomal dominant focal dystonia, dyt7 type10.3
19myoclonus-dystonia10.3SGCE, TOR1A
20generalized dystonia10.3SGCE, TOR1A
21alcohol dependence10.3DRD2
22movement disease10.3SGCE, TOR1A
23oromandibular dystonia10.2
24cervicitis10.2
25spinocerebellar ataxia10.2
26chorea10.2
27dystonia 2510.2
28thoracic outlet syndrome10.2
29germinoma10.2
30myoclonus10.2
31attention deficit hyperactivity disorder10.2DRD5, DRD2
32narcolepsy10.2HLA-DRB1, DRD2
33migraine10.2DRD5, DRD2
34multiple system atrophy10.2DRD2, PARK2
35mental retardation10.1TIMM8A, DRD2, PARK2
36lewy body dementia10.1NDUFS4, PARK2
37brain injury10.0
38cerebellar ataxia10.0
39spinal stenosis10.0
40traumatic brain injury10.0
41wilson disease10.0
42central pontine myelinolysis10.0
43focal hand dystonia10.0
44oculogyric crisis10.0
45spasmodic dystonia10.0
46creutzfeldt-jakob disease10.0
47ulnar neuropathy10.0
48restless legs syndrome10.0
49localized scleroderma10.0
50siderosis10.0

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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Drug clinical trials:

Search ClinicalTrials for Focal Dystonia

Search NIH Clinical Center for Focal Dystonia

Genetic Tests for Focal Dystonia

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Anatomical Context for Focal Dystonia

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MalaCards organs/tissues related to Focal Dystonia:

32
Brain, Cortex, Skin

Animal Models for Focal Dystonia or affiliated genes

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MGI Mouse Phenotypes related to Focal Dystonia:

36
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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Articles related to Focal Dystonia:

(show top 50)    (show all 187)
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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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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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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Sources:
28IUPHAR, 44Novoseek, 50PharmGKB, 11DrugBank, 24HMDB
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Compounds related to Focal Dystonia according to GeneCards/GeneDecks:

(show all 33)
idCompoundScoreTop Affiliating Genes
1cis flupentixol2810.2DRD5, DRD2
2(+)-butaclamol44 2811.2DRD2, DRD5
3zuclopenthixol44 50 1112.2DRD2, DRD5
4rotigotine28 44 1112.2DRD5, DRD2
5fluphenazine28 44 50 1113.1DRD2, DRD5
6spiperone44 2811.1DRD2, DRD5
7methylphenidate44 50 1112.1DRD5, DRD2
8ropinirole44 1111.1DRD2, DRD5
9thioridazine28 44 50 1113.1DRD5, DRD2
10lisuride44 28 1112.1DRD5, DRD2
11pergolide44 28 1112.1DRD2, DRD5
12pramipexole44 28 50 1113.1DRD2, DRD5
13ketanserin44 2811.1DRD5, DRD2
14cabergoline44 28 1112.1DRD2, DRD5
15aripiprazole28 44 50 24 1114.1DRD2, DRD5
16ziprasidone28 50 44 1113.0DRD2, DRD5
17apomorphine28 44 1112.0DRD2, DRD5
18quetiapine44 50 28 24 1113.9DRD2, DRD5
19chlorpromazine28 44 50 1112.9DRD5, DRD2
20bromocriptine44 28 1111.8DRD5, DRD2
21olanzapine44 50 28 24 1113.8DRD2, DRD5
221 methyl 4 phenylpyridinium449.8NDUFS4, PARK2
236-hydroxydopamine449.5PARK2, DRD2, NDUFS4
24mptp449.5NDUFS4, DRD2, PARK2
25rotenone449.4NDUFS4, PARK2
26norepinephrine44 24 1111.4DRD5, DRD2, NDUFS4
27levodopa44 1110.2NDUFS4, DRD2, DRD5, PARK2
28dopamine44 28 24 1111.8PARK2, TOR1A, DRD5, DRD2, NDUFS4
29iron44 249.8PARK2, TBP, NDUFS4
30glutamate448.6HLA-DRB1, TOR1A, DRD2, NDUFS4
31tyrosine448.5HLA-DRB1, TIMM8A, PARK2, TOR1A, DRD5
32lysine448.4TBP, PARK2, HLA-DRB1
33atp44 289.3NDUFS4, TBP, PARK2, HLA-DRB1

GO Terms for genes affiliated with Focal Dystonia

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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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  • Antibodies
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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet