MCID: MYC001
MIFTS: 20

Myoclonic Cerebellar Dyssynergia malady

Categories: Rare diseases, Neuronal diseases

Aliases & Classifications for Myoclonic Cerebellar Dyssynergia

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Aliases & Descriptions for Myoclonic Cerebellar Dyssynergia:

Name: Myoclonic Cerebellar Dyssynergia 11 39 13 68
Dyssynergia Cerebellaris Myoclonica 11 48 49
Dyssynergia Cerebellaris Progressiva 48 49
Dentate Cerebellar Ataxia 48 49
Primary Dentatum Atrophy 48 49
 
Dentatorubral Atrophy 48 49
Ramsay Hunt Cerebellar Syndrome 48
Progressive Cerebellar Tremor 11
Progressive Myoclonus Ataxia 48
Myoclonus and Ataxia 48

Characteristics:


Classifications:



External Ids:

Disease Ontology11 DOID:12707
ICD1030 G11.1
MeSH39 D002527

Summaries for Myoclonic Cerebellar Dyssynergia

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NINDS:49 Dyssynergia Cerebellaris Myoclonica refers to a collection of rare, degenerative, neurological disorders characterized by epilepsy, cognitive impairment, myoclonus, and progressive ataxia.  Symptoms include seizures, tremor, and reduced muscle coordination.  Onset of the disorder generally occurs in early adulthood.  Tremor may begin in one extremity and later spread to involve the entire voluntary muscular system.  Arms are usually more affected than legs.  Some of the cases are due to mitochondrial abnormalities.

MalaCards based summary: Myoclonic Cerebellar Dyssynergia, also known as dyssynergia cerebellaris myoclonica, is related to gosr2-related progressive myoclonus ataxia and ramsay hunt syndrome i, and has symptoms including ataxia, myoclonus and intention tremor. An important gene associated with Myoclonic Cerebellar Dyssynergia is MT-TK (Mitochondrially Encoded TRNA Lysine). Related mouse phenotype Increased shRNA abundance (Z-score > 2).

Related Diseases for Myoclonic Cerebellar Dyssynergia

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Diseases related to Myoclonic Cerebellar Dyssynergia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1gosr2-related progressive myoclonus ataxia12.0
2ramsay hunt syndrome i11.3
3epilepsy, progressive myoclonic 611.0
4epilepsy, progressive myoclonic 1a10.9
5geniculate herpes zoster10.9
6galactosialidosis10.8
7mitochondrial encephalomyopathy10.2
8encephalomyopathy10.2
9myoclonus10.2
10glioma susceptibility 49.8CTSA, VIM
11nephronophthisis9.5CTSA, MT-TK, VIM

Graphical network of diseases related to Myoclonic Cerebellar Dyssynergia:



Diseases related to myoclonic cerebellar dyssynergia

Symptoms & Phenotypes for Myoclonic Cerebellar Dyssynergia

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Human phenotypes related to Myoclonic Cerebellar Dyssynergia:

 64 (show all 8)
id Description HPO Frequency HPO Source Accession
1 ataxia64 HP:0001251
2 myoclonus64 HP:0001336
3 intention tremor64 HP:0002080
4 generalized seizures64 HP:0002197
5 ragged-red muscle fibers64 HP:0003200
6 pallidal degeneration64 HP:0007132
7 abnormality of the mitochondrion64 HP:0012103
8 abnormality of the dentate nucleus64 HP:0100321

GenomeRNAi Phenotypes related to Myoclonic Cerebellar Dyssynergia according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-1929.1CTSA, VIM

Drugs & Therapeutics for Myoclonic Cerebellar Dyssynergia

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Myoclonic Cerebellar Dyssynergia


Cochrane evidence based reviews: myoclonic cerebellar dyssynergia

Genetic Tests for Myoclonic Cerebellar Dyssynergia

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Anatomical Context for Myoclonic Cerebellar Dyssynergia

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Publications for Myoclonic Cerebellar Dyssynergia

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Articles related to Myoclonic Cerebellar Dyssynergia:

idTitleAuthorsYear
1
Clinical and electroencephalographic investigations in myoclonic cerebellar dyssynergia. (14411893)
1959

Variations for Myoclonic Cerebellar Dyssynergia

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Expression for genes affiliated with Myoclonic Cerebellar Dyssynergia

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Search GEO for disease gene expression data for Myoclonic Cerebellar Dyssynergia.

Pathways for genes affiliated with Myoclonic Cerebellar Dyssynergia

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GO Terms for genes affiliated with Myoclonic Cerebellar Dyssynergia

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Sources for Myoclonic Cerebellar Dyssynergia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet