DYT11
MCID: MYC011
MIFTS: 54

Myoclonus-Dystonia (DYT11) malady

Genetic diseases, Rare diseases categories

Summaries for Myoclonus-Dystonia

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22Genetics Home Reference, 66Wikipedia, 48OMIM, 20GeneReviews, 34MalaCards
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Genetics Home Reference:22 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:66 Myoclonic distonia or Myoclonus-dystonia syndrome is a rare syndrome having several subforms each traced... more...

Description from OMIM:48 159900

GeneReviews summary for myo-dystonia

Aliases & Classifications for Myoclonus-Dystonia

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20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 48OMIM, 46Novoseek, 63UMLS
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Classifications:

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


Aliases & Descriptions:

myoclonus-dystonia 20 44 22
myoclonic dystonia 20 44 23 22 46 63
hereditary essential myoclonus 20 44 22
myoclonus-dystonia syndrome 44 21 22
dystonia 11 20 44
dyt11 44 22
myoclonus, hereditary essential 44
dystonia, alcohol responsive 44
alcohol-responsive dystonia 22
dystonia, myoclonic 48


Related Diseases for Myoclonus-Dystonia

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18GeneCards, 19GeneDecks
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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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48OMIM
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Clinical features from OMIM:

159900

Drugs & Therapeutics for Myoclonus-Dystonia

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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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

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21GeneTests, 23GTR
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Genetic tests related to Myoclonus-Dystonia:

id Genetic test Affiliating Genes
1 Myoclonus-Dystonia21 SGCE
2 Myoclonic Dystonia23

Anatomical Context for Myoclonus-Dystonia

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34MalaCards
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MalaCards organs/tissues related to Myoclonus-Dystonia:

34
Brain, Testes, Globus pallidus

Animal Models for Myoclonus-Dystonia or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Myoclonus-Dystonia:

38
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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53PubMed
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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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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Myoclonus-Dystonia:

65 (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, 16Gene 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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51PathCards, 31KEGG, 52PharmGKB, 39NCBI 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 Neurons39
9.5DRD2, TH
39.4TOR1A, TH
48.9NKX2-1, TOR1A, TH

Compounds for genes affiliated with Myoclonus-Dystonia

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46Novoseek, 52PharmGKB, 12DrugBank, 30IUPHAR, 25HMDB, 3BitterDB
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Compounds related to Myoclonus-Dystonia according to GeneCards/GeneDecks:

(show all 34)
idCompoundScoreTop Affiliating Genes
1alpha-methyl-p-tyrosine469.9DRD2, TH
2d amphetamine469.9DRD2, TH
3methylphenidate46 52 1211.9DRD2, TH
4reserpine46 30 1211.9TH, DRD2
5domperidone46 30 1211.9TH, DRD2
6maoa469.8DRD2, TH
7pramipexole46 30 52 1212.8DRD2, TH
8quinpirole46 3010.8DRD2, TH
96-pyruvoyltetrahydropterin469.8TH, GCH1
104a-hydroxytetrahydrobiopterin46 2510.8GCH1, TH
11apomorphine30 46 1211.8DRD2, TH
12dihydrobiopterin46 2510.8TH, GCH1
13dihydropteridine46 2510.8TH, GCH1
14pteridine469.8GCH1, TH
15quetiapine46 52 30 25 1213.8TH, DRD2
16sepiapterin46 2510.8TH, GCH1
17methamphetamine46 52 1211.7DRD2, TH
186-hydroxydopamine469.7DRD2, TH
19l-amino acid469.7GCH1, TH
20tetrahydrobiopterin46 25 1211.7GCH1, TH
21amphetamine46 52 1211.7TH, DRD2
22opiate469.7DRD2, TH
23clozapine46 30 52 1212.6DRD2, TH
24haloperidol46 52 30 3 1213.6TH, DRD2
25mptp469.5GCH1, DRD2, TH
26levodopa46 1210.4GCH1, DRD2, TH
27catecholamine469.4GCH1, TH
28epinephrine46 25 1211.4TH, DRD2, GCH1
29norepinephrine46 25 1211.3TH, DRD2, GCH1
30gtp46 3010.2GCH1, TOR1A, TH
31morphine46 52 30 1212.2DRD2, TH
32dopamine46 30 25 1212.0TH, TOR1A, DRD2, GCH1
33dexamethasone46 52 30 1211.8UBC, NKX2-1, TH
34tyrosine468.4TH, TOR1A, NKX2-1, GCH1

GO Terms for genes affiliated with Myoclonus-Dystonia

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17Gene 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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet