DYT11
MCID: MYC011
MIFTS: 57

Myoclonus-Dystonia (DYT11) malady

Summaries for Myoclonus-Dystonia

About this section
Sources:
21Genetics Home Reference, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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 familial 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, testes and globus pallidus, and related mouse phenotypes are nervous system and behavior/neurological.

Wikipedia:63 Myoclonic distonia or Myoclonus-dystonia syndrome is a rare syndrome having several subforms each traced... more...

Description from OMIM:46 159900

GeneReviews summary for myo-dystonia

Aliases & Classifications for Myoclonus-Dystonia

About this section
Sources:
19GeneReviews, 20GeneTests, 21Genetics Home Reference, 42NIH Rare Diseases, 22GTR, 44Novoseek, 60UMLS, 46OMIM
See all sources

Aliases & Descriptions:

myoclonus-dystonia 19 20 21
myoclonic dystonia 19 42 22 21 44 60
hereditary essential myoclonus 19 42 21
dystonia 11 19 42
dyt11 42 21
myoclonus, hereditary essential 42
dystonia, alcohol responsive 42
alcohol-responsive dystonia 21
myoclonus-dystonia syndrome 21
dystonia, myoclonic 46


Related Diseases for Myoclonus-Dystonia

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show all 48)
idRelated DiseaseScoreTop Affiliating Genes
1familial dystonia31.0SGCE, TOR1A
2alcohol dependence30.3DRD2, DRD4
3obsessive-compulsive disorder30.3SGCE, DRD4, DRD3, DRD2
4dystonia 15, myoclonic10.2
5dystonia-11, myoclonic10.2
6silver-russell syndrome10.1
7spinocerebellar ataxia10.1
818p deletion syndrome10.1
9spinocerebellar ataxia type 1410.1
10restless legs syndrome10.0DRD2
11phenylketonuria10.0GCH1
12dementia10.0TH
13blepharospasm10.0TOR1A
14tyrosine hydroxylase deficiency10.0TH
15focal dystonia10.0TOR1A, DRD2
16paraganglioma10.0TH
17colorectal cancer10.0DRD2
18neuroblastoma10.0TH
19anorexia nervosa10.0DRD4
20panic disorder10.0DRD4
21delusional disorder10.0DRD2, DRD4
22nicotine dependence10.0DRD2, DRD4
23bipolar disorder10.0TH, DRD2
24lewy body dementia10.0TH
25gilles de la tourette syndrome10.0DRD4, DRD2
26torsion dystonia10.0TOR1A, GCH1
27mental retardation10.0TH, DRD2
28gtp cyclohydrolase i deficiency10.0TH, GCH1
29hypertension10.0TH
30progressive supranuclear palsy10.0DRD2, TH
31cocaine dependence10.0DRD3, DRD2
32opiate dependence10.0DRD3, DRD2
33hyperphenylalaninemia10.0GCH1, TH
34attention deficit hyperactivity disorder10.0DRD2, DRD4
35drug addiction10.0DRD2, DRD3
36hyperprolactinemia10.0TH, DRD2, DRD4
37movement disease10.0SGCE, GCH1, TH, TOR1A
38heroin dependence10.0DRD4, DRD2
39personality disorder10.0DRD4, DRD3, DRD2
40pathological gambling10.0DRD2, DRD3, DRD4
41substance dependence10.0DRD4, DRD3, DRD2
42substance abuse10.0DRD2, DRD4, DRD3
43migraine10.0DRD2, DRD3, DRD4
44schizoaffective disorder10.0DRD3, DRD2, DRD4
45psychotic disorder10.0DRD3, DRD4, TH, DRD2
46mood disorder10.0DRD4, DRD3, DRD2, TH
47schizophrenia10.0DRD2, DRD3, TH, DRD4
48parkinson's disease10.0TH, DRD2, DRD3, GCH1, UBC

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



Diseases related to myoclonus-dystonia

Clinical Features for Myoclonus-Dystonia

About this section
Sources:
46OMIM
See all sources

Clinical features from OMIM:

159900

Drugs & Therapeutics for Myoclonus-Dystonia

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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

About this section
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

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Myoclonus-Dystonia:

32
Brain, Testes, Globus pallidus

Animal Models for Myoclonus-Dystonia or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Myoclonus-Dystonia:

36
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

About this section
Sources:
50PubMed
See all sources

Articles related to Myoclonus-Dystonia:

(show top 50)    (show all 109)
idTitleAuthorsYear
1
Myoclonus-dystonia and epilepsy in a family with a novel epsilon-sarcoglycan mutation. (24297365)
2013
2
Myoclonus-dystonia and Silver-Russell syndrome resulting from maternal uniparental disomy of chromosome 7. (23237735)
2013
3
A point mutation in I/-sarcoglycan induces inherited myoclonus dystonia syndrome in a Chinese family. (23641306)
2013
4
Metabolic changes in DYT11 myoclonus-dystonia. (23284065)
2013
5
Primary Myoclonus-Dystonia: A Diagnosis Often Missed in Children. (23748201)
2013
6
Cognition and psychopathology in myoclonus-dystonia. (22626943)
2012
7
Alteration of striatal dopaminergic neurotransmission in a mouse model of DYT11 myoclonus-dystonia. (22438980)
2012
8
Familial 7q21.3 microdeletion involving epsilon-sarcoglycan causing myoclonus dystonia, cognitive impairment, and psychosis. (21425342)
2011
9
Severity of dystonia is correlated with putaminal gray matter changes in myoclonus-dystonia. (21219543)
2011
10
Functional magnetic resonance imaging evidence of incomplete maternal imprinting in myoclonus-dystonia. (21320983)
2011
11
A gain-of-glycosylation mutation associated with myoclonus-dystonia syndrome affects trafficking and processing of mouse epsilon- sarcoglycan in the late secretory pathway. (21796726)
2011
12
A novel mutation of the SGCE-gene in a German family with myoclonus-dystonia syndrome. (21267590)
2011
13
Myoclonus-dystonia syndrome. (21496608)
2011
14
Bilateral deep brain stimulation of the pallidum for myoclonus-dystonia due to I/-sarcoglycan mutations: a pilot study. (21220679)
2011
15
Atypical symptomatology of myoclonus dystonia (DYT-11) with positive response to bilateral pallidal deep brain stimulation. (21630356)
2011
16
Myoclonus-dystonia and spinocerebellar ataxia type 14 presenting with similar phenotypes: trunk tremor, myoclonus, and dystonia. (19913450)
2010
17
Iatrogenic belly dancer syndrome following quadruple deep brain stimulation in a patient with myoclonus dystonia (DYT11). (20803514)
2010
18
Clinical and neurophysiological improvement of SGCE myoclonus-dystonia with GPi deep brain stimulation. (19896264)
2010
19
Pallidal and thalamic deep brain stimulation in myoclonus-dystonia. (20623686)
2010
20
Myoclonus dystonia plus syndrome due to a novel 7q21 microdeletion. (20425829)
2010
21
Myoclonus-dystonia: an update. (19117361)
2009
22
Reduced striatal D2 receptor binding in myoclonus-dystonia. (18719906)
2009
23
Excellent response to oral zolpidem in a sporadic case of the myoclonus dystonia syndrome. (19735067)
2009
24
Myoclonus-dystonia: clinical and genetic evaluation of a large cohort. (19066193)
2009
25
Myoclonus and tremor response to thalamic deep brain stimulation parameters in a patient with inherited myoclonus-dystonia syndrome. (19081669)
2009
26
Focal brain glucose hypermetabolism in myoclonus-dystonia syndrome caused by an epsilon-sarcoglycan gene mutation. (19261534)
2009
27
A novel mutation of the epsilon-sarcoglycan gene in a Chinese family with myoclonus-dystonia syndrome. (18581468)
2008
28
Electrophysiological features of myoclonus-dystonia. (18759341)
2008
29
Frontotemporal and striatal SPECT abnormalities in myoclonus-dystonia: phenotypic and pathogenetic considerations. (18309231)
2008
30
Myoclonus-dystonia syndrome: clinical presentation, disease course, and genetic features in 11 families. (17853490)
2008
31
A neurophysiological study of myoclonus in patients with DYT11 myoclonus-dystonia syndrome. (18759336)
2008
32
Myoclonus-dystonia, obsessive-compulsive disorder, and alcohol dependence in SGCE mutation carriers. (17296918)
2007
33
Evidence for progressive changes in clinical presentation of myoclonus-dystonia. (17486615)
2007
34
Clinical differentiation of genetically proven benign hereditary chorea and myoclonus-dystonia. (17702043)
2007
35
Novel and de novo mutations of the SGCE gene in Brazilian patients with myoclonus-dystonia. (17394244)
2007
36
Deep brain stimulation in myoclonus-dystonia syndrome. (15197720)
2004
37
Inherited myoclonus-dystonia. (14509663)
2004
38
Myoclonus-dystonia: detection of novel, recurrent, and de novo SGCE mutations. (15079037)
2004
39
Mutations in the epsilon-sarcoglycan gene found to be uncommon in seven myoclonus-dystonia families. (12874409)
2003
40
A novel mutation in the epsilon-sarcoglycan gene causing myoclonus-dystonia syndrome. (12743249)
2003
41
Hereditary myoclonus-dystonia associated with epilepsy. (12821748)
2003
42
Autosomal dominant GTP-CH deficiency presenting as a dopa-responsive myoclonus-dystonia syndrome. (12391354)
2002
43
Inherited myoclonus-dystonia. (11968443)
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
Inherited myoclonus-dystonia: evidence supporting genetic heterogeneity. (11215567)
2001
47
Evaluation of the role of the D2 dopamine receptor in myoclonus dystonia. (10716258)
2000
48
A major locus for myoclonus-dystonia maps to chromosome 7q in eight families. (11022010)
2000
49
Association of a missense change in the D2 dopamine receptor with myoclonus dystonia. (10220438)
1999
50
Localization of a gene for myoclonus-dystonia to chromosome 7q21-q31. (10554001)
1999

Genetic Variations for Myoclonus-Dystonia

About this section
Sources:
62UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Myoclonus-Dystonia:

62 (show all 13)
id Symbol AA change Variation ID SNP ID
1SGCEp.Leu196ArgVAR_026750
2SGCEp.Thr36ArgVAR_066732
3SGCEp.His60ProVAR_066733
4SGCEp.His60ArgVAR_066734
5SGCEp.Met92ThrVAR_066735
6SGCEp.Trp100GlyVAR_066736
7SGCEp.Gly112ArgVAR_066737
8SGCEp.Tyr115CysVAR_066738
9SGCEp.Leu175SerVAR_066739
10SGCEp.Ser177CysVAR_066740
11SGCEp.Leu184ProVAR_066741
12SGCEp.Trp270ArgVAR_066742
13SGCEp.Cys271TyrVAR_066743

Expression for genes affiliated with Myoclonus-Dystonia

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
37NCBI BioSystems Database, 4Cell Signaling Technology, 53Reactome, 51QIAGEN, 29KEGG, 49PharmGKB
See all sources

Compounds for genes affiliated with Myoclonus-Dystonia

About this section
Sources:
28IUPHAR, 44Novoseek, 49PharmGKB, 11DrugBank, 2BitterDB, 24HMDB
See all sources

Compounds related to Myoclonus-Dystonia according to GeneCards/GeneDecks:

(show top 50)    (show all 98)
idCompoundScoreTop Affiliating Genes
1(+)-uh232289.8DRD3, DRD2
27-trans-oh-pipat289.7DRD2, DRD3
3methylphenidate44 49 1111.7DRD2, DRD4, TH
47-oh-dpat289.7DRD2, DRD3
5pd 12890744 2810.7DRD2, DRD3
6maoa449.7DRD2, DRD4, TH
7(-)-sulpiride289.7DRD4, DRD3, DRD2
8(+)-sulpiride289.7DRD4, DRD3, DRD2
9eticlopride28 4410.7DRD2, DRD3, DRD4
10nemonapride49 44 2811.7DRD2, DRD3, DRD4
11(+)-butaclamol28 4410.6DRD2, DRD3, DRD4
12sch 23390449.6DRD2, DRD3, DRD4
13remoxipride44 1110.6DRD4, DRD3, DRD2
14piribedil28 4410.6DRD2, DRD3, DRD4
15benzamide44 210.6DRD4, DRD3, DRD2
16domperidone44 28 1111.6TH, DRD3, DRD2
17rotigotine44 28 1111.6DRD2, DRD3, DRD4
18raclopride44 2810.6DRD2, DRD3, DRD4
19roxindole28 4410.6DRD4, DRD3, DRD2
20terguride28 4410.6DRD2, DRD3, DRD4
21piperazine44 1110.6DRD2, DRD3, DRD4
22spiperone28 4410.6DRD2, DRD3, DRD4
23sulpiride44 28 1111.6DRD2, DRD3, DRD4
24(-)-n-porphynorapomorphine289.6DRD2, DRD3
25ropinirole44 1110.6DRD2, DRD3, DRD4
26lisuride28 44 1111.5DRD4, DRD3, DRD2
27paliperidone44 1110.5DRD2, DRD3, DRD4
28pergolide28 44 1111.5DRD2, DRD3, DRD4
29Methotrimeprazine119.5DRD2, DRD3, DRD4
30iloperidone49 44 28 1112.5DRD2, DRD3, DRD4
31asenapine28 1110.5DRD2, DRD3, DRD4
32cabergoline28 44 1111.5DRD4, DRD3, DRD2
33heroin44 49 1111.4DRD4, DRD3, DRD2
34aripiprazole28 49 44 11 2413.4DRD4, DRD3, DRD2
35[3h]nemonapride289.4DRD2, DRD3
36ziprasidone49 28 44 1112.4DRD2, DRD3, DRD4
37mptp449.3TH, DRD3, DRD2, GCH1
38pramipexole44 49 28 1112.3TH, DRD4, DRD3, DRD2
39quinpirole44 2810.3DRD2, DRD3, DRD4, TH
40apomorphine44 28 1111.2TH, DRD4, DRD3, DRD2
41quetiapine44 49 28 11 2413.2DRD2, DRD3, DRD4, TH
42methamphetamine44 49 1111.2DRD2, DRD3, DRD4, TH
436-hydroxydopamine449.2DRD2, DRD3, DRD4, TH
44clozapine44 28 49 1112.2DRD2, DRD3, DRD4, TH
45haloperidol44 28 2 49 1113.1TH, DRD4, DRD3, DRD2
46catecholamine449.1GCH1, DRD3, DRD4, TH
47cocaine44 1110.0DRD2, DRD3, DRD4, TH
48levodopa44 119.9GCH1, DRD2, DRD3, DRD4, TH
49norepinephrine44 11 2410.8GCH1, DRD2, DRD3, DRD4, TH
50dopamine44 28 11 2411.6GCH1, DRD2, DRD3, DRD4, TOR1A, TH

GO Terms for genes affiliated with Myoclonus-Dystonia

About this section
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:0154599.7DRD2, DRD4
2dopamine neurotransmitter receptor activity, coupled via Gi/GoGO:0015919.1DRD4, DRD2, DRD3
3drug bindingGO:0081448.9DRD2, DRD3, DRD4
4dopamine bindingGO:0352408.8DRD2, DRD3, DRD4, TH

Products for genes affiliated with Myoclonus-Dystonia

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Myoclonus-Dystonia

About this section
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
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet