MCID: MYC030
MIFTS: 10

Myoclonic Epilepsy Myopathy Sensory Ataxia

Aliases & Classifications for Myoclonic Epilepsy Myopathy Sensory Ataxia

MalaCards integrated aliases for Myoclonic Epilepsy Myopathy Sensory Ataxia:

Name: Myoclonic Epilepsy Myopathy Sensory Ataxia 24 28
Spinocerebellar Ataxia with Epilepsy 24 69
Memsa 24
Scae 24

External Ids:

UMLS 69 C1843852

Summaries for Myoclonic Epilepsy Myopathy Sensory Ataxia

Genetics Home Reference : 24 Myoclonic epilepsy myopathy sensory ataxia, commonly called MEMSA, is part of a group of conditions called the POLG-related disorders. The conditions in this group feature a range of similar signs and symptoms involving muscle-, nerve-, and brain-related functions. The signs and symptoms of MEMSA typically appear during young adulthood. This condition had previously been known as spinocerebellar ataxia with epilepsy (SCAE).

MalaCards based summary : Myoclonic Epilepsy Myopathy Sensory Ataxia, also known as spinocerebellar ataxia with epilepsy, is related to sensory ataxic neuropathy, dysarthria, and ophthalmoparesis and multiple system atrophy 1. Affiliated tissues include brain.

Related Diseases for Myoclonic Epilepsy Myopathy Sensory Ataxia

Diseases related to Myoclonic Epilepsy Myopathy Sensory Ataxia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 11.7
2 multiple system atrophy 1 9.9
3 ring chromosome y syndrome 9.9

Symptoms & Phenotypes for Myoclonic Epilepsy Myopathy Sensory Ataxia

Drugs & Therapeutics for Myoclonic Epilepsy Myopathy Sensory Ataxia

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Myoclonic Epilepsy Myopathy Sensory Ataxia

Genetic Tests for Myoclonic Epilepsy Myopathy Sensory Ataxia

Genetic tests related to Myoclonic Epilepsy Myopathy Sensory Ataxia:

# Genetic test Affiliating Genes
1 Myoclonic Epilepsy Myopathy Sensory Ataxia 28

Anatomical Context for Myoclonic Epilepsy Myopathy Sensory Ataxia

MalaCards organs/tissues related to Myoclonic Epilepsy Myopathy Sensory Ataxia:

38
Brain

Publications for Myoclonic Epilepsy Myopathy Sensory Ataxia

Articles related to Myoclonic Epilepsy Myopathy Sensory Ataxia:

# Title Authors Year
1
Minocycline 1-year therapy in multiple-system-atrophy: effect on clinical symptoms and [(11)C] (R)-PK11195 PET (MEMSA-trial). ( 20014118 )
2010

Variations for Myoclonic Epilepsy Myopathy Sensory Ataxia

ClinVar genetic disease variations for Myoclonic Epilepsy Myopathy Sensory Ataxia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 POLG NM_002693.2(POLG): c.1399G> A (p.Ala467Thr) single nucleotide variant Pathogenic/Likely pathogenic rs113994095 GRCh37 Chromosome 15, 89870432: 89870432

Expression for Myoclonic Epilepsy Myopathy Sensory Ataxia

Search GEO for disease gene expression data for Myoclonic Epilepsy Myopathy Sensory Ataxia.

Pathways for Myoclonic Epilepsy Myopathy Sensory Ataxia

GO Terms for Myoclonic Epilepsy Myopathy Sensory Ataxia

Sources for Myoclonic Epilepsy Myopathy Sensory Ataxia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
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29 HGMD
30 HMDB
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58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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