DYT11
MCID: MYC011
MIFTS: 51

Myoclonus-Dystonia (DYT11) malady

Summaries for Myoclonus-Dystonia

Sources:
21Genetics Home Reference, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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Genetics Home Reference:21 Myoclonus-dystonia is a movement disorder that typically affects the upper half of the body. Individuals with this condition experience quick, involuntary muscle jerking or twitching (myoclonus) that usually affects their arms, neck, and trunk. Less frequently, the legs are involved as well. More than half of affected individuals also develop dystonia, which is a pattern of involuntary muscle contractions that causes twisting and pulling movements of specific body parts. The dystonia associated with myoclonus-dystonia may affect a single part of the body, causing isolated problems such as a writer's cramp in the hand, or it may involve multiple areas of the body. Rarely, people with this condition have dystonia as their only symptom.

MalaCards: Myoclonus-Dystonia, also known as myoclonic dystonia, is related to focal dystonia and alcohol dependence. An important gene associated with Myoclonus-Dystonia is DRD2 (dopamine receptor D2), and among its related pathways are Alpha-synuclein signaling and Hypothetical Network for Drug Addiction. The compounds (+)-uh232 and 7-trans-oh-pipat have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and globus pallidus, and related mouse phenotypes are nervous system and behavior/neurological.

Wikipedia:64 Myoclonic distonia or Myoclonus-dystonia syndrome is a rare syndrome having several subforms each traced... more...

Description from OMIM:47 159900

GeneReviews summary for myo-dystonia

Aliases & Classifications for Myoclonus-Dystonia

Sources:
19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 45Novoseek, 61UMLS
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Aliases & Descriptions:

myoclonus-dystonia 19 20 21
myoclonic dystonia 19 43 22 21 45 61
hereditary essential myoclonus 19 43 21
dystonia 11 19 43
dyt11 43 21
myoclonus, hereditary essential 43
dystonia, alcohol responsive 43
alcohol-responsive dystonia 21
myoclonus-dystonia syndrome 21
dystonia, myoclonic 47


Related Diseases for Myoclonus-Dystonia

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

(show top 50)    (show all 58)
idRelated DiseaseScoreTop Affiliating Genes
1focal dystonia30.3DRD2, TOR1A
2alcohol dependence30.3DRD4, DRD2
3obsessive-compulsive disorder30.3DRD2, DRD3, DRD4, SGCE
4torsion dystonia30.2TOR1A, GCH1
5tyrosine hydroxylase deficiency30.1TH
6myoclonus11.1
7dystonia 710.4
8myoclonus epilepsy10.3
9dystonia 15, myoclonic10.2
10silver-russell syndrome10.2
11n syndrome10.2
12german syndrome10.2
13tremor10.2
14dystonia-11, myoclonic10.2
15spinocerebellar ataxia10.1
16micro syndrome10.1
17dystonia 110.1
18dystonia 1810.1
19benign hereditary chorea10.1
20ataxia10.1
21chorea10.1
22restless legs syndrome10.0DRD2
23phenylketonuria10.0GCH1
24dementia10.0TH
25blepharospasm10.0TOR1A
26paraganglioma10.0TH
27colorectal cancer10.0DRD2
28neuroblastoma10.0TH
29anorexia nervosa10.0DRD4
30familial dystonia10.0SGCE, TOR1A
31panic disorder10.0DRD4
32delusional disorder10.0DRD4, DRD2
33nicotine dependence10.0DRD4, DRD2
34bipolar disorder10.0DRD2, TH
35lewy body dementia10.0TH
36gilles de la tourette syndrome10.0DRD2, DRD4
37mental retardation10.0TH, DRD2
38gtp cyclohydrolase i deficiency10.0TH, GCH1
39hypertension10.0TH
40progressive supranuclear palsy10.0TH, DRD2
41cocaine dependence10.0DRD2, DRD3
42opiate dependence10.0DRD2, DRD3
43hyperphenylalaninemia10.0TH, GCH1
44attention deficit hyperactivity disorder10.0DRD4, DRD2
45drug addiction10.0DRD2, DRD3
46hyperprolactinemia10.0TH, DRD4, DRD2
47movement disease10.0GCH1, TOR1A, TH, SGCE
48heroin dependence10.0DRD2, DRD4
49personality disorder10.0DRD4, DRD3, DRD2
50pathological gambling10.0DRD2, DRD3, DRD4

Graphical network of the top 20 diseases related to Myoclonus-Dystonia:



Diseases related to myoclonus-dystonia

Clinical Features for Myoclonus-Dystonia

Sources:
47OMIM
See all sources

Clinical features from OMIM:

159900

Drugs & Therapeutics for Myoclonus-Dystonia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Myoclonus-Dystonia

Drug clinical trials:

Search ClinicalTrials for Myoclonus-Dystonia

Search NIH Clinical Center for Myoclonus-Dystonia

Search CenterWatch for Myoclonus-Dystonia

Genetic Tests for Myoclonus-Dystonia

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Myoclonus-Dystonia:

id Genetic test Affiliating Genes
1 Myoclonus-dystonia20 SGCE
2 Myoclonic Dystonia22

Anatomical Context for Myoclonus-Dystonia

Sources:
33MalaCards
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MalaCards organs/tissues related to Myoclonus-Dystonia:

33
Brain, Cortex, Globus pallidus

Animal Models for Myoclonus-Dystonia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Myoclonus-Dystonia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036317.8DRD3, DRD4, TOR1A, NKX2-1, TH, SGCE
2MP:00053867.5SGCE, DRD2, DRD3, DRD4, TOR1A, NKX2-1

Publications for Myoclonus-Dystonia

Sources:
51PubMed
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Articles related to Myoclonus-Dystonia:

(show top 50)    (show all 120)
idTitleAuthorsYear
1
A novel conserved mutation in SGCE gene in 3 unrelated patients with classical phenotype myoclonus-dystonia syndrome. (23561547)
2013
2
Myoclonus-dystonia syndrome associated with Russell Silver syndrome. (23703955)
2013
3
Surgical treatment of myoclonus dystonia syndrome. (23401150)
2013
4
Metabolic changes in DYT11 myoclonus-dystonia. (23284065)
2013
5
Functional MRI study of response inhibition in myoclonus dystonia. (23474191)
2013
6
Primary Myoclonus-Dystonia: A Diagnosis Often Missed in Children. (23748201)
2013
7
Myoclonus and dystonia in cerebrotendinous xanthomatosis. (23115103)
2012
8
Cognition and psychopathology in myoclonus-dystonia. (22626943)
2012
9
Deep Brain Stimulation of the Pallidum is Effective and Might Stabilize Striatal D(2) Receptor Binding in Myoclonus-Dystonia. (22363319)
2012
10
Palatal myoclonus associated with orofacial buccal dystonia. (22468202)
2012
11
A novel SGCE gene mutation causing myoclonus dystonia in a family with an unusual phenotype. (22026499)
2012
12
Clinical reasoning: A 13-year-old boy presenting with dystonia, myoclonus, and anxiety. (22411962)
2012
13
Severity of dystonia is correlated with putaminal gray matter changes in myoclonus-dystonia. (21219543)
2011
14
Functional magnetic resonance imaging evidence of incomplete maternal imprinting in myoclonus-dystonia. (21320983)
2011
15
Effect of pallidal deep brain stimulation on psychiatric symptoms in myoclonus-dystonia due to I/-sarcoglycan mutations. (21825253)
2011
16
A patient with genetically confirmed myoclonus-dystonia responded to anticholinergic treatment and improved spontaneously. (22259621)
2011
17
Atypical symptomatology of myoclonus dystonia (DYT-11) with positive response to bilateral pallidal deep brain stimulation. (21630356)
2011
18
Hereditary myoclonus dystonia (DYT11): a novel SGCE gene mutation with intrafamilial phenotypic heterogeneity. (20222131)
2010
19
Disorganized sensorimotor integration in mutation-positive myoclonus-dystonia: a functional magnetic resonance imaging study. (20385914)
2010
20
The intermuscular 3-7 Hz drive is not affected by distal proprioceptive input in myoclonus-dystonia. (20157700)
2010
21
Bilateral pallidal deep brain stimulation in a case of myoclonus dystonia syndrome. (19425058)
2009
22
Normal cortical excitability in Myoclonus-Dystonia--a TMS study. (19118553)
2009
23
Focal brain glucose hypermetabolism in myoclonus-dystonia syndrome caused by an epsilon-sarcoglycan gene mutation. (19261534)
2009
24
Is psychopathology part of the phenotypic spectrum of myoclonus-dystonia?: a study of a large Dutch M-D family. (19506430)
2009
25
Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with epsilon-sarcoglycan mutations. (18175340)
2008
26
Cortical excitability in DYT-11 positive myoclonus dystonia. (18265016)
2008
27
A neurophysiological study of myoclonus in patients with DYT11 myoclonus-dystonia syndrome. (18759336)
2008
28
Abnormal low frequency drive in myoclonus-dystonia patients correlates with presence of dystonia. (17486590)
2007
29
SGCE missense mutations that cause myoclonus-dystonia syndrome impair epsilon-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA. (17200151)
2007
30
Refinement of the DYT15 locus in myoclonus dystonia. (17274032)
2007
31
Autosomal dominant myoclonus-dystonia and Tourette syndrome in a family without linkage to the SGCE gene. (17702041)
2007
32
Phenotype-genotype correlation in Dutch patients with myoclonus-dystonia. (16534121)
2006
33
Distal myoclonus and late onset in a large Dutch family with myoclonus-dystonia. (17101905)
2006
34
Functional MRI reveals activation of a subcortical network in a 5-year-old girl with genetically confirmed myoclonus-dystonia. (16773505)
2006
35
Deep brain stimulation in myoclonus-dystonia syndrome. (15197720)
2004
36
Inherited myoclonus-dystonia. (14509663)
2004
37
Clinical and genetic features of myoclonus-dystonia in 3 cases: a video presentation. (14978685)
2004
38
Inherited myoclonus-dystonia and epilepsy: further evidence of an association? (15389977)
2004
39
Focal myoclonus-dystonia of the leg secondary to a lesion of the posterolateral putamen: clinical and neurophysiological features. (12671956)
2003
40
Phenotypic features of myoclonus-dystonia in three kindreds. (12391346)
2002
41
Clinical findings of a myoclonus-dystonia family with two distinct mutations. (12391355)
2002
42
Inherited myoclonus-dystonia: how many causative genes and clinical phenotypes? (12391338)
2002
43
Evidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia. (12444570)
2002
44
Myoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotype. (12325078)
2002
45
Myoclonus dystonia: possible association with obsessive-compulsive disorder and alcohol dependence. (11805251)
2002
46
A major locus for several phenotypes of myoclonus--dystonia on chromosome 7q. (11342690)
2001
47
Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus- dystonia syndrome. (11528394)
2001
48
Inherited Myoclonus-dystonia syndrome: narrowing the 7q21-q31 locus in German families. (11198282)
2001
49
A major locus for myoclonus-dystonia maps to chromosome 7q in eight families. (11022010)
2000
50
Myoclonus-Dystonia (20301587)
1993

Genetic Variations for Myoclonus-Dystonia

Expression for genes affiliated with Myoclonus-Dystonia

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

Search GEO for disease gene expression data for Myoclonus-Dystonia.

Pathways for genes affiliated with Myoclonus-Dystonia

Sources:
38NCBI BioSystems Database, 4Cell Signaling Technology, 54Reactome, 52QIAGEN, 30KEGG, 50PharmGKB
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Compounds for genes affiliated with Myoclonus-Dystonia

Sources:
29IUPHAR, 45Novoseek, 50PharmGKB, 11DrugBank, 2BitterDB, 24HMDB
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Compounds related to Myoclonus-Dystonia according to GeneCards/GeneDecks:

(show top 50)    (show all 98)
idCompoundScoreTop Affiliating Genes
1(+)-uh232299.8DRD3, DRD2
27-trans-oh-pipat299.7DRD2, DRD3
3methylphenidate45 50 1111.7DRD2, DRD4, TH
47-oh-dpat299.7DRD2, DRD3
5pd 12890745 2910.7DRD2, DRD3
6maoa459.7DRD2, DRD4, TH
7(-)-sulpiride299.7DRD4, DRD3, DRD2
8(+)-sulpiride299.7DRD4, DRD3, DRD2
9eticlopride29 4510.7DRD2, DRD3, DRD4
10nemonapride50 45 2911.7DRD2, DRD3, DRD4
11(+)-butaclamol29 4510.6DRD2, DRD3, DRD4
12sch 23390459.6DRD2, DRD3, DRD4
13remoxipride45 1110.6DRD4, DRD3, DRD2
14piribedil29 4510.6DRD2, DRD3, DRD4
15benzamide45 210.6DRD4, DRD3, DRD2
16domperidone45 29 1111.6TH, DRD3, DRD2
17rotigotine45 29 1111.6DRD2, DRD3, DRD4
18raclopride45 2910.6DRD2, DRD3, DRD4
19roxindole29 4510.6DRD4, DRD3, DRD2
20terguride29 4510.6DRD2, DRD3, DRD4
21piperazine45 1110.6DRD2, DRD3, DRD4
22spiperone29 4510.6DRD2, DRD3, DRD4
23sulpiride45 29 1111.6DRD2, DRD3, DRD4
24(-)-n-porphynorapomorphine299.6DRD2, DRD3
25ropinirole45 1110.6DRD2, DRD3, DRD4
26lisuride29 45 1111.5DRD4, DRD3, DRD2
27paliperidone45 1110.5DRD2, DRD3, DRD4
28pergolide29 45 1111.5DRD2, DRD3, DRD4
29Methotrimeprazine119.5DRD2, DRD3, DRD4
30iloperidone50 45 29 1112.5DRD2, DRD3, DRD4
31asenapine29 1110.5DRD2, DRD3, DRD4
32cabergoline29 45 1111.5DRD4, DRD3, DRD2
33heroin45 50 1111.4DRD4, DRD3, DRD2
34aripiprazole29 50 45 11 2413.4DRD4, DRD3, DRD2
35[3h]nemonapride299.4DRD2, DRD3
36ziprasidone50 29 45 1112.4DRD2, DRD3, DRD4
37mptp459.3TH, DRD3, DRD2, GCH1
38pramipexole45 50 29 1112.3TH, DRD4, DRD3, DRD2
39quinpirole45 2910.3DRD2, DRD3, DRD4, TH
40apomorphine45 29 1111.2TH, DRD4, DRD3, DRD2
41quetiapine45 50 29 11 2413.2DRD2, DRD3, DRD4, TH
42methamphetamine45 50 1111.2DRD2, DRD3, DRD4, TH
436-hydroxydopamine459.2DRD2, DRD3, DRD4, TH
44clozapine45 29 50 1112.2DRD2, DRD3, DRD4, TH
45haloperidol45 29 2 50 1113.1TH, DRD4, DRD3, DRD2
46catecholamine459.1GCH1, DRD3, DRD4, TH
47cocaine45 1110.0DRD2, DRD3, DRD4, TH
48levodopa45 119.9GCH1, DRD2, DRD3, DRD4, TH
49norepinephrine45 11 2410.8GCH1, DRD2, DRD3, DRD4, TH
50dopamine45 29 11 2411.6GCH1, DRD2, DRD3, DRD4, TOR1A, TH

GO Terms for genes affiliated with Myoclonus-Dystonia

Sources:
16Gene Ontology
See all sources

Cellular components related to Myoclonus-Dystonia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1perikaryonGO:0432049.8TH, DRD2
2terminal boutonGO:0431959.5TH, DRD4
3endocytic vesicleGO:0301399.4DRD3, DRD2

Biological processes related to Myoclonus-Dystonia according to GeneCards/GeneDecks:

(show all 33)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of voltage-gated calcium channel activityGO:190138610.1DRD2, DRD4
2positive regulation of dopamine uptake involved in synaptic transmissionGO:05158610.1DRD2, DRD4
3behavioral response to ethanolGO:04814910.0DRD2, DRD4
4response to light stimulusGO:00941610.0TH, DRD2
5negative regulation of dopamine receptor signaling pathwayGO:06016010.0DRD2, DRD3
6dopamine biosynthetic processGO:04241610.0TH, GCH1
7regulation of dopamine uptake involved in synaptic transmissionGO:05158410.0DRD3, DRD2
8regulation of cAMP metabolic processGO:03081410.0DRD2, DRD3
9regulation of dopamine secretionGO:0140599.9DRD3, DRD2
10G-protein coupled receptor internalizationGO:0020319.9DRD2, DRD3
11prepulse inhibitionGO:0601349.9DRD2, DRD3
12circadian regulation of gene expressionGO:0329229.9DRD3, DRD2
13positive regulation of renal sodium excretionGO:0358159.8DRD3, DRD2
14response to morphineGO:0432789.8DRD2, DRD3
15response to cocaineGO:0422209.8DRD2, DRD3
16pigmentationGO:0434739.8DRD2, TH
17negative regulation of protein kinase B signaling cascadeGO:0518989.7DRD2, DRD3
18negative regulation of blood pressureGO:0457769.7DRD3, DRD2, GCH1
19visual learningGO:0085429.7DRD3, DRD2
20response to histamineGO:0347769.6DRD4, DRD3, DRD2
21adenylate cyclase-inhibiting dopamine receptor signaling pathwayGO:0071959.6DRD4, DRD3, DRD2
22dopamine metabolic processGO:0424179.6DRD2, DRD3, DRD4
23negative regulation of protein secretionGO:0507099.6DRD2, DRD3, DRD4
24behavioral response to cocaineGO:0481489.6DRD2, DRD3, DRD4
25arachidonic acid secretionGO:0504829.6DRD4, DRD3, DRD2
26negative regulation of adenylate cyclase activityGO:0071949.6DRD2, DRD3, DRD4
27cellular calcium ion homeostasisGO:0068749.5DRD4, DRD3, DRD2
28learningGO:0076129.4TH, DRD3
29social behaviorGO:0351769.4DRD3, DRD4, TH
30locomotory behaviorGO:0076269.3DRD2, DRD3, NKX2-1, TH
31synaptic transmission, dopaminergicGO:0019639.2TH, DRD4, DRD3, DRD2
32response to amphetamineGO:0019759.2DRD2, DRD3, DRD4, TH
33positive regulation of transcription from RNA polymerase II promoterGO:0459448.5UBC, DRD2, DRD3, NKX2-1

Molecular functions related to Myoclonus-Dystonia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1potassium channel regulator activityGO:0154599.7DRD4, DRD2
2dopamine neurotransmitter receptor activity, coupled via Gi/GoGO:0015919.1DRD2, DRD3, DRD4
3drug bindingGO:0081448.9DRD4, DRD3, DRD2
4dopamine bindingGO:0352408.8TH, DRD4, DRD3, DRD2

Products for genes affiliated with Myoclonus-Dystonia

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Sources for Myoclonus-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