DYT11
MCID: MYC011
MIFTS: 54

Myoclonus-Dystonia (DYT11) malady

Genetic diseases, Rare diseases categories
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Summaries for Myoclonus-Dystonia

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21Genetics Home Reference, 65Wikipedia, 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 obsessive-compulsive disorder and torsion dystonia. An important gene associated with Myoclonus-Dystonia is DRD2 (dopamine receptor D2), and among its related pathways are Amphetamine addiction and Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics. The compounds alpha-methyl-p-tyrosine and d amphetamine 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:65 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

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19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 45Novoseek, 62UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


Aliases & Descriptions:

myoclonus-dystonia 19 43 21
myoclonic dystonia 19 43 22 21 45 62
hereditary essential myoclonus 19 43 21
myoclonus-dystonia syndrome 43 20 21
dystonia 11 19 43
dyt11 43 21
myoclonus, hereditary essential 43
dystonia, alcohol responsive 43
alcohol-responsive dystonia 21
dystonia, myoclonic 47


Related Diseases for Myoclonus-Dystonia

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Myoclonus-Dystonia:



Diseases related to myoclonus-dystonia

Symptoms for Myoclonus-Dystonia

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47OMIM
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Clinical features from OMIM:

159900

Drugs & Therapeutics for Myoclonus-Dystonia

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Myoclonus-Dystonia

Search NIH Clinical Center for Myoclonus-Dystonia

Genetic Tests for Myoclonus-Dystonia

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20GeneTests, 22GTR
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Genetic tests related to Myoclonus-Dystonia:

id Genetic test Affiliating Genes
1 Myoclonus-Dystonia20 SGCE
2 Myoclonic Dystonia22

Anatomical Context for Myoclonus-Dystonia

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

33
Brain, Testes, Globus pallidus

Animal Models for Myoclonus-Dystonia or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Myoclonus-Dystonia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036318.2DRD2, NKX2-1, TOR1A, SGCE, TH
2MP:00053867.9TH, SGCE, TOR1A, NKX2-1, DRD2
3MP:00053847.6UBC, DRD2, NKX2-1, TOR1A, SGCE, TH

Publications for Myoclonus-Dystonia

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52PubMed
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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
A novel conserved mutation in SGCE gene in 3 unrelated patients with classical phenotype myoclonus-dystonia syndrome. (23561547)
2013
3
Myoclonus-dystonia syndrome associated with Russell Silver syndrome. (23703955)
2013
4
Myoclonus-dystonia and Silver-Russell syndrome resulting from maternal uniparental disomy of chromosome 7. (23237735)
2013
5
Surgical treatment of myoclonus dystonia syndrome. (23401150)
2013
6
Cognition and psychopathology in myoclonus-dystonia. (22626943)
2012
7
Abnormal nuclear envelope in the cerebellar Purkinje cells and impaired motor learning in DYT11 myoclonus-dystonia mouse models. (22040906)
2012
8
Deep Brain Stimulation of the Pallidum is Effective and Might Stabilize Striatal D(2) Receptor Binding in Myoclonus-Dystonia. (22363319)
2012
9
Familial 7q21.3 microdeletion involving epsilon-sarcoglycan causing myoclonus dystonia, cognitive impairment, and psychosis. (21425342)
2011
10
Severity of dystonia is correlated with putaminal gray matter changes in myoclonus-dystonia. (21219543)
2011
11
Functional magnetic resonance imaging evidence of incomplete maternal imprinting in myoclonus-dystonia. (21320983)
2011
12
SGCE isoform characterization and expression in human brain: implications for myoclonus-dystonia pathogenesis? (21157498)
2011
13
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
14
Effect of pallidal deep brain stimulation on psychiatric symptoms in myoclonus-dystonia due to I/-sarcoglycan mutations. (21825253)
2011
15
Large SGCE deletion contributes to Taiwanese myoclonus-dystonia syndrome. (20800530)
2010
16
Myoclonus-dystonia and spinocerebellar ataxia type 14 presenting with similar phenotypes: trunk tremor, myoclonus, and dystonia. (19913450)
2010
17
Hereditary myoclonus dystonia (DYT11): a novel SGCE gene mutation with intrafamilial phenotypic heterogeneity. (20222131)
2010
18
Iatrogenic belly dancer syndrome following quadruple deep brain stimulation in a patient with myoclonus dystonia (DYT11). (20803514)
2010
19
Disorganized sensorimotor integration in mutation-positive myoclonus-dystonia: a functional magnetic resonance imaging study. (20385914)
2010
20
Bilateral pallidal deep brain stimulation in a case of myoclonus dystonia syndrome. (19425058)
2009
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
Pediatric writer's cramp in myoclonus-dystonia: maternal imprinting hides positive family history. (18571946)
2009
25
A novel mutation of the epsilon-sarcoglycan gene in a Chinese family with myoclonus-dystonia syndrome. (18581468)
2008
26
Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with epsilon-sarcoglycan mutations. (18175340)
2008
27
Novel SGCE gene mutation in a Korean patient with myoclonus-dystonia with unique phenotype mimicking Moya-Moya disease. (17394247)
2007
28
Abnormal low frequency drive in myoclonus-dystonia patients correlates with presence of dystonia. (17486590)
2007
29
Myoclonus-dystonia, obsessive-compulsive disorder, and alcohol dependence in SGCE mutation carriers. (17296918)
2007
30
SGCE missense mutations that cause myoclonus-dystonia syndrome impair epsilon-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA. (17200151)
2007
31
Evidence for progressive changes in clinical presentation of myoclonus-dystonia. (17486615)
2007
32
Local field potentials and oscillatory activity of the internal globus pallidus in myoclonus-dystonia. (17216649)
2007
33
Phenotype-genotype correlation in Dutch patients with myoclonus-dystonia. (16534121)
2006
34
Myoclonus-dystonia due to genomic deletions in the epsilon-sarcoglycan gene. (16240355)
2005
35
Deep brain stimulation in myoclonus-dystonia syndrome. (15197720)
2004
36
Inherited myoclonus-dystonia. (14509663)
2004
37
Genetic heterogeneity in ten families with myoclonus-dystonia. (15258227)
2004
38
Myoclonus-dystonia: detection of novel, recurrent, and de novo SGCE mutations. (15079037)
2004
39
Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: evidence for genetic heterogeneity. (14502674)
2003
40
Focal myoclonus-dystonia of the leg secondary to a lesion of the posterolateral putamen: clinical and neurophysiological features. (12671956)
2003
41
Mutations in the epsilon-sarcoglycan gene found to be uncommon in seven myoclonus-dystonia families. (12874409)
2003
42
A novel mutation in the epsilon-sarcoglycan gene causing myoclonus-dystonia syndrome. (12743249)
2003
43
Severe myoclonus-dystonia syndrome associated with a novel epsilon-sarcoglycan gene truncating mutation. (12707948)
2003
44
Phenotypic features of myoclonus-dystonia in three kindreds. (12391346)
2002
45
Clinical findings of a myoclonus-dystonia family with two distinct mutations. (12391355)
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
Evaluation of the role of the D2 dopamine receptor in myoclonus dystonia. (10716258)
2000
49
Association of a missense change in the D2 dopamine receptor with myoclonus dystonia. (10220438)
1999
50
Myoclonus-Dystonia (20301587)
1993

Variations for Myoclonus-Dystonia

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Myoclonus-Dystonia:

64 (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

Clinvar genetic disease variations for Myoclonus-Dystonia:

1 (show all 13)
id Gene Name Type Significance SNP ID Assembly Location
1DRD2NM_000795.3(DRD2): c.460G> A (p.Val154Ile)single nucleotide variantPathogenicrs104894220GRCh37Chr 11, 113287657: 113287657
2SGCENM_003919.2(SGCE): c.289C> T (p.Arg97Ter)single nucleotide variantPathogenicrs121908489GRCh37Chr 7, 94257615: 94257615
3SGCENM_003919.2(SGCE): c.304C> T (p.Arg102Ter)single nucleotide variantPathogenicrs121908490GRCh37Chr 7, 94257600: 94257600
4SGCESGCE, 1-BP DEL, 565AdeletionPathogenic
5SGCESGCE, 97-BP DELdeletionPathogenic
6SGCESGCE, 5-BP DEL, NT835deletionPathogenic
7SGCENM_003919.2(SGCE): c.587T> G (p.Leu196Arg)single nucleotide variantPathogenicrs121908491GRCh37Chr 7, 94248145: 94248145
8SGCESGCE, 1-BP INS, 885TinsertionPathogenic
9SGCESGCE, 1-BP DEL, 974CdeletionPathogenic
10SGCENM_003919.2(SGCE): c.1114C> T (p.Arg372Ter)single nucleotide variantPathogenicrs121908492GRCh37Chr 7, 94228226: 94228226
11SGCESGCE, EX5 DELdeletionPathogenic
12SGCESGCE, EX6 DELdeletionPathogenic
13SGCESGCE, 2-BP DEL, 619AGdeletionPathogenic

Expression for genes affiliated with Myoclonus-Dystonia

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2BioGPS, 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

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50PathCards, 30KEGG, 51PharmGKB, 38NCBI BioSystems Database, 5Cell Signaling Technology
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Pathways related to Myoclonus-Dystonia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.5DRD2, TH
2
Show member pathways
Nicotine Activity on Dopaminergic Neurons38
9.5DRD2, TH
39.4TOR1A, TH
48.9NKX2-1, TOR1A, TH

Compounds for genes affiliated with Myoclonus-Dystonia

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45Novoseek, 51PharmGKB, 11DrugBank, 29IUPHAR, 24HMDB, 3BitterDB
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Compounds related to Myoclonus-Dystonia according to GeneCards/GeneDecks:

(show all 34)
idCompoundScoreTop Affiliating Genes
1alpha-methyl-p-tyrosine459.9DRD2, TH
2d amphetamine459.9DRD2, TH
3methylphenidate45 51 1111.9DRD2, TH
4reserpine45 29 1111.9TH, DRD2
5domperidone45 29 1111.9TH, DRD2
6maoa459.8DRD2, TH
7pramipexole45 29 51 1112.8DRD2, TH
8quinpirole45 2910.8DRD2, TH
96-pyruvoyltetrahydropterin459.8TH, GCH1
104a-hydroxytetrahydrobiopterin45 2410.8GCH1, TH
11apomorphine29 45 1111.8DRD2, TH
12dihydrobiopterin45 2410.8TH, GCH1
13dihydropteridine45 2410.8TH, GCH1
14pteridine459.8GCH1, TH
15quetiapine45 51 29 24 1113.8TH, DRD2
16sepiapterin45 2410.8TH, GCH1
17methamphetamine45 51 1111.7DRD2, TH
186-hydroxydopamine459.7DRD2, TH
19l-amino acid459.7GCH1, TH
20tetrahydrobiopterin45 24 1111.7GCH1, TH
21amphetamine45 51 1111.7TH, DRD2
22opiate459.7DRD2, TH
23clozapine45 29 51 1112.6DRD2, TH
24haloperidol45 51 29 3 1113.6TH, DRD2
25mptp459.5GCH1, DRD2, TH
26levodopa45 1110.4GCH1, DRD2, TH
27catecholamine459.4GCH1, TH
28epinephrine45 24 1111.4TH, DRD2, GCH1
29norepinephrine45 24 1111.3TH, DRD2, GCH1
30gtp45 2910.2GCH1, TOR1A, TH
31morphine45 51 29 1112.2DRD2, TH
32dopamine45 29 24 1112.0TH, TOR1A, DRD2, GCH1
33dexamethasone45 51 29 1111.8UBC, NKX2-1, TH
34tyrosine458.4TH, TOR1A, NKX2-1, GCH1

GO Terms for genes affiliated with Myoclonus-Dystonia

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

idNameGO IDScoreTop Affiliating Genes
1cytoplasmic vesicleGO:0314109.4GCH1, TH
2perikaryonGO:0432049.2DRD2, TH

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of blood pressureGO:0457769.7GCH1, DRD2
2synaptic transmission, dopaminergicGO:0019639.7TH, DRD2
3response to light stimulusGO:0094169.7DRD2, TH
4pigmentationGO:0434739.6TH, DRD2
5dopamine biosynthetic processGO:0424169.6GCH1, TH
6response to amphetamineGO:0019759.5DRD2, TH
7response to lipopolysaccharideGO:0324969.4GCH1, TH
8negative regulation of transforming growth factor beta receptor signaling pathwayGO:0305129.3NKX2-1, UBC
9negative regulation of cell migrationGO:0303369.3DRD2, NKX2-1
10locomotory behaviorGO:0076269.2DRD2, NKX2-1, TH

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

idNameGO IDScoreTop Affiliating Genes
1dopamine bindingGO:0352409.2DRD2, TH
2protein bindingGO:0055157.6GCH1, UBC, DRD2, NKX2-1, TOR1A, TH

Products for genes affiliated with Myoclonus-Dystonia

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Sources for Myoclonus-Dystonia

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet