MCID: MYC001
MIFTS: 23

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 13 37 66
Dyssynergia Cerebellaris Myoclonica 11 46 47
Dyssynergia Cerebellaris Progressiva 46 47
Dentate Cerebellar Ataxia 46 47
Primary Dentatum Atrophy 46 47
Dentatorubral Atrophy 46 47
 
Ramsay Hunt Cerebellar Syndrome 46
Progressive Cerebellar Tremor 11
Progressive Myoclonus Ataxia 46
Ramsay Hunt Syndrome Type 1 46
Ramsay Hunt Syndrome I 47
Myoclonus and Ataxia 46

Characteristics:



Classifications:



External Ids:

Disease Ontology11 DOID:12707
ICD1028 G11.1
MeSH37 D002527

Summaries for Myoclonic Cerebellar Dyssynergia

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NINDS:47 Dyssynergia Cerebellaris Myoclonica refers to a collection of rare, degenerative, neurological disorders characterized by epilepsy, cognitive impairment, myoclonus, and progressive ataxia.

MalaCards based summary: Myoclonic Cerebellar Dyssynergia, also known as dyssynergia cerebellaris myoclonica, is related to gosr2-related progressive myoclonus ataxia and epilepsy, progressive myoclonic 6, and has symptoms including cerebellar ataxia, myoclonus and tremor nec in icd9cm_2014. An important gene associated with Myoclonic Cerebellar Dyssynergia is MT-TK (Mitochondrially Encoded TRNA Lysine).

Related Diseases for Myoclonic Cerebellar Dyssynergia

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Graphical network of diseases related to Myoclonic Cerebellar Dyssynergia:



Diseases related to myoclonic cerebellar dyssynergia

Symptoms for Myoclonic Cerebellar Dyssynergia

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HPO human phenotypes related to Myoclonic Cerebellar Dyssynergia:

(show all 8)
id Description Frequency HPO Source Accession
1 ataxia HP:0001251
2 myoclonus HP:0001336
3 intention tremor HP:0002080
4 generalized seizures HP:0002197
5 ragged-red muscle fibers HP:0003200
6 pallidal degeneration HP:0007132
7 abnormality of the mitochondrion HP:0012103
8 abnormality of the dentate nucleus HP:0100321

UMLS symptoms related to Myoclonic Cerebellar Dyssynergia:


cerebellar ataxia, myoclonus, tremor nec in icd9cm_2014

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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Animal Models for Myoclonic Cerebellar Dyssynergia or affiliated genes

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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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet