MCID: MYC001
MIFTS: 21

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 38 13 67
Dyssynergia Cerebellaris Myoclonica 11 47 48
Dyssynergia Cerebellaris Progressiva 47 48
Dentate Cerebellar Ataxia 47 48
Primary Dentatum Atrophy 47 48
 
Dentatorubral Atrophy 47 48
Ramsay Hunt Cerebellar Syndrome 47
Progressive Cerebellar Tremor 11
Progressive Myoclonus Ataxia 47
Myoclonus and Ataxia 47

Characteristics:


Classifications:



External Ids:

Disease Ontology11 DOID:12707
ICD1029 G11.1
MeSH38 D002527

Summaries for Myoclonic Cerebellar Dyssynergia

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NINDS:48 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 ramsay hunt syndrome i, and has symptoms including tremor nec in icd9cm_2014, myoclonus and cerebellar ataxia. 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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Human phenotypes related to Myoclonic Cerebellar Dyssynergia:

 63 (show all 8)
id Description HPO Frequency HPO Source Accession
1 ataxia63 HP:0001251
2 myoclonus63 HP:0001336
3 intention tremor63 HP:0002080
4 generalized seizures63 HP:0002197
5 ragged-red muscle fibers63 HP:0003200
6 pallidal degeneration63 HP:0007132
7 abnormality of the mitochondrion63 HP:0012103
8 abnormality of the dentate nucleus63 HP:0100321

UMLS symptoms related to Myoclonic Cerebellar Dyssynergia:


tremor nec in icd9cm_2014, myoclonus, cerebellar ataxia

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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet