DYT11
MCID: MYC011
MIFTS: 55

Myoclonus-Dystonia (DYT11) malady

Genetic diseases, Rare diseases categories
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Summaries for Myoclonus-Dystonia

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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 based summary: Myoclonus-Dystonia, also known as myoclonic dystonia, is related to obsessive-compulsive disorder and tyrosine hydroxylase deficiency. 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, globus pallidus and testes, 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:46 159900

GeneReviews summary for myo-dystonia

Aliases & Classifications for Myoclonus-Dystonia

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Myoclonus-Dystonia, Aliases & Descriptions:

Name: Myoclonus-Dystonia 19 42 21
Myoclonic Dystonia 19 42 22 21 44 62
Myoclonus-Dystonia Syndrome 42 20 21 62
Hereditary Essential Myoclonus 19 42 21
Myoclonus, Hereditary Essential 42 62
 
Alcohol-Responsive Dystonia 21 62
Dystonia 11 19 42
Dyt11 42 21
Dystonia, Alcohol Responsive 42
Dystonia, Myoclonic 46


Classifications:

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


Related Diseases for Myoclonus-Dystonia

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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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Clinical features from OMIM:

159900

Drugs & Therapeutics for Myoclonus-Dystonia

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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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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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MalaCards organs/tissues related to Myoclonus-Dystonia:

32
Brain, Globus pallidus, Testes

Animal Models for Myoclonus-Dystonia or affiliated genes

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MGI Mouse Phenotypes related to Myoclonus-Dystonia:

36
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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Articles related to Myoclonus-Dystonia:

(show top 50)    (show all 119)
idTitleAuthorsYear
1
SGCZ mutations are unlikely to be associated with myoclonus dystonia. (24792710)
2014
2
Myoclonus-dystonia (DYT11) with novel SGCE mutation misdiagnosed as a primary psychiatric disorder. (25204586)
2014
3
The neurophysiological features of myoclonus-dystonia and differentiation from other dystonias. (24638021)
2014
4
Early surgical treatment in a case of myoclonus dystonia syndrome. (24453142)
2014
5
Myoclonus-dystonia and epilepsy in a family with a novel epsilon-sarcoglycan mutation. (24297365)
2013
6
A novel conserved mutation in SGCE gene in 3 unrelated patients with classical phenotype myoclonus-dystonia syndrome. (23561547)
2013
7
Myoclonus-dystonia syndrome associated with Russell Silver syndrome. (23703955)
2013
8
Myoclonus-dystonia and Silver-Russell syndrome resulting from maternal uniparental disomy of chromosome 7. (23237735)
2013
9
Surgical treatment of myoclonus dystonia syndrome. (23401150)
2013
10
Cognition and psychopathology in myoclonus-dystonia. (22626943)
2012
11
Abnormal nuclear envelope in the cerebellar Purkinje cells and impaired motor learning in DYT11 myoclonus-dystonia mouse models. (22040906)
2012
12
Deep Brain Stimulation of the Pallidum is Effective and Might Stabilize Striatal D(2) Receptor Binding in Myoclonus-Dystonia. (22363319)
2012
13
Familial 7q21.3 microdeletion involving epsilon-sarcoglycan causing myoclonus dystonia, cognitive impairment, and psychosis. (21425342)
2011
14
Severity of dystonia is correlated with putaminal gray matter changes in myoclonus-dystonia. (21219543)
2011
15
Functional magnetic resonance imaging evidence of incomplete maternal imprinting in myoclonus-dystonia. (21320983)
2011
16
SGCE isoform characterization and expression in human brain: implications for myoclonus-dystonia pathogenesis? (21157498)
2011
17
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
18
Large SGCE deletion contributes to Taiwanese myoclonus-dystonia syndrome. (20800530)
2010
19
Myoclonus-dystonia and spinocerebellar ataxia type 14 presenting with similar phenotypes: trunk tremor, myoclonus, and dystonia. (19913450)
2010
20
Hereditary myoclonus dystonia (DYT11): a novel SGCE gene mutation with intrafamilial phenotypic heterogeneity. (20222131)
2010
21
Iatrogenic belly dancer syndrome following quadruple deep brain stimulation in a patient with myoclonus dystonia (DYT11). (20803514)
2010
22
Bilateral pallidal deep brain stimulation in a case of myoclonus dystonia syndrome. (19425058)
2009
23
Myoclonus-dystonia: an update. (19117361)
2009
24
Reduced striatal D2 receptor binding in myoclonus-dystonia. (18719906)
2009
25
Excellent response to oral zolpidem in a sporadic case of the myoclonus dystonia syndrome. (19735067)
2009
26
Pediatric writer's cramp in myoclonus-dystonia: maternal imprinting hides positive family history. (18571946)
2009
27
A novel mutation of the epsilon-sarcoglycan gene in a Chinese family with myoclonus-dystonia syndrome. (18581468)
2008
28
Novel SGCE gene mutation in a Korean patient with myoclonus-dystonia with unique phenotype mimicking Moya-Moya disease. (17394247)
2007
29
Abnormal low frequency drive in myoclonus-dystonia patients correlates with presence of dystonia. (17486590)
2007
30
Myoclonus-dystonia, obsessive-compulsive disorder, and alcohol dependence in SGCE mutation carriers. (17296918)
2007
31
SGCE missense mutations that cause myoclonus-dystonia syndrome impair epsilon-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA. (17200151)
2007
32
Evidence for progressive changes in clinical presentation of myoclonus-dystonia. (17486615)
2007
33
Local field potentials and oscillatory activity of the internal globus pallidus in myoclonus-dystonia. (17216649)
2007
34
Phenotype-genotype correlation in Dutch patients with myoclonus-dystonia. (16534121)
2006
35
Myoclonus-dystonia due to genomic deletions in the epsilon-sarcoglycan gene. (16240355)
2005
36
Deep brain stimulation in myoclonus-dystonia syndrome. (15197720)
2004
37
Inherited myoclonus-dystonia. (14509663)
2004
38
Genetic heterogeneity in ten families with myoclonus-dystonia. (15258227)
2004
39
Myoclonus-dystonia: detection of novel, recurrent, and de novo SGCE mutations. (15079037)
2004
40
Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: evidence for genetic heterogeneity. (14502674)
2003
41
Focal myoclonus-dystonia of the leg secondary to a lesion of the posterolateral putamen: clinical and neurophysiological features. (12671956)
2003
42
Mutations in the epsilon-sarcoglycan gene found to be uncommon in seven myoclonus-dystonia families. (12874409)
2003
43
A novel mutation in the epsilon-sarcoglycan gene causing myoclonus-dystonia syndrome. (12743249)
2003
44
Severe myoclonus-dystonia syndrome associated with a novel epsilon-sarcoglycan gene truncating mutation. (12707948)
2003
45
Phenotypic features of myoclonus-dystonia in three kindreds. (12391346)
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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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:

6 (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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Expression patterns in normal tissues for genes affiliated with Myoclonus-Dystonia

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Pathways for genes affiliated with Myoclonus-Dystonia

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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 Neurons37
9.5DRD2, TH
39.4TOR1A, TH
48.9NKX2-1, TOR1A, TH

Compounds for genes affiliated with Myoclonus-Dystonia

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Sources:
44Novoseek, 50PharmGKB, 11DrugBank, 28IUPHAR, 24HMDB, 2BitterDB
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Compounds related to Myoclonus-Dystonia according to GeneCards/GeneDecks:

(show all 34)
idCompoundScoreTop Affiliating Genes
1alpha-methyl-p-tyrosine449.9DRD2, TH
2d amphetamine449.9DRD2, TH
3methylphenidate44 50 1111.9DRD2, TH
4reserpine44 28 1111.9TH, DRD2
5domperidone44 28 1111.9TH, DRD2
6maoa449.8DRD2, TH
7pramipexole44 28 50 1112.8DRD2, TH
8quinpirole44 2810.8DRD2, TH
96-pyruvoyltetrahydropterin449.8TH, GCH1
104a-hydroxytetrahydrobiopterin44 2410.8GCH1, TH
11apomorphine28 44 1111.8DRD2, TH
12dihydrobiopterin44 2410.8TH, GCH1
13dihydropteridine44 2410.8TH, GCH1
14pteridine449.8GCH1, TH
15quetiapine44 50 28 24 1113.8TH, DRD2
16sepiapterin44 2410.8TH, GCH1
17methamphetamine44 50 1111.7DRD2, TH
186-hydroxydopamine449.7DRD2, TH
19l-amino acid449.7GCH1, TH
20tetrahydrobiopterin44 24 1111.7GCH1, TH
21amphetamine44 50 1111.7TH, DRD2
22opiate449.7DRD2, TH
23clozapine44 28 50 1112.6DRD2, TH
24haloperidol44 50 28 2 1113.6TH, DRD2
25mptp449.5GCH1, DRD2, TH
26levodopa44 1110.4GCH1, DRD2, TH
27catecholamine449.4GCH1, TH
28epinephrine44 24 1111.4TH, DRD2, GCH1
29norepinephrine44 24 1111.3TH, DRD2, GCH1
30gtp44 2810.2GCH1, TOR1A, TH
31morphine44 50 28 1112.2DRD2, TH
32dopamine44 28 24 1112.0TH, TOR1A, DRD2, GCH1
33dexamethasone44 50 28 1111.8UBC, NKX2-1, TH
34tyrosine448.4TH, TOR1A, NKX2-1, GCH1

GO Terms for genes affiliated with Myoclonus-Dystonia

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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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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