SCAE
MCID: MYC030
MIFTS: 17

Myoclonic Epilepsy Myopathy Sensory Ataxia (SCAE)

Categories: Neuronal diseases

Aliases & Classifications for Myoclonic Epilepsy Myopathy Sensory Ataxia

MalaCards integrated aliases for Myoclonic Epilepsy Myopathy Sensory Ataxia:

Name: Myoclonic Epilepsy Myopathy Sensory Ataxia 25 29 6
Spinocerebellar Ataxia with Epilepsy 25 71
Memsa 25
Scae 25

Classifications:



External Ids:

UMLS 71 C1843852

Summaries for Myoclonic Epilepsy Myopathy Sensory Ataxia

Genetics Home Reference : 25 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). POLG The first symptom of MEMSA is usually cerebellar ataxia, which refers to problems with coordination and balance due to defects in the part of the brain that is involved in coordinating movement (cerebellum). Recurrent seizures (epilepsy) usually develop later, often in combination with uncontrollable muscle jerks (myoclonus). The seizures usually begin in the right arm and spread to become generalized throughout the body. Additionally, affected individuals may have severe brain dysfunction (encephalopathy) or muscle weakness (myopathy). The myopathy can affect muscles close to the center of the body (proximal), such as the muscles of the hips, thighs, upper arms, or neck, or muscles farther away from the center of the body (distal), such as the muscles of the hands or feet. The myopathy may be especially noticeable during exercise (exercise intolerance).

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. An important gene associated with Myoclonic Epilepsy Myopathy Sensory Ataxia is POLG (DNA Polymerase Gamma, Catalytic Subunit). The drugs Epigallocatechin and Epigallocatechin gallate have been mentioned in the context of this disorder. Affiliated tissues include brain and cerebellum.

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 12.1
2 multiple system atrophy 1 10.2
3 48,xyyy 10.2
4 multiple system atrophy, parkinsonian type 10.2

Symptoms & Phenotypes for Myoclonic Epilepsy Myopathy Sensory Ataxia

Drugs & Therapeutics for Myoclonic Epilepsy Myopathy Sensory Ataxia

Drugs for Myoclonic Epilepsy Myopathy Sensory Ataxia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Epigallocatechin Experimental, Investigational Phase 3 970-74-1 72277
2
Epigallocatechin gallate Investigational Phase 3 989-51-5 65064
3 Protective Agents Phase 3
4 Neuroprotective Agents Phase 3
5 Antioxidants Phase 3
6
Cysteamine Approved, Investigational Phase 2 60-23-1 6058

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Double-blind, Randomised, Placebo-controlled Parallel Group Study to Investigate the Effect of EGCG Supplementation on Disease Progression of Patients With Multiple System Atrophy (MSA) Completed NCT02008721 Phase 3 EGCG as putative neuroprotective agent;Placebo
2 A Long-Term Open-Label Extension Study of RP103-MITO-001 to Assess the Safety, Tolerability and Efficacy of Cysteamine Bitartrate Delayed-release Capsules (RP103) for Treatment of Children With Inherited Mitochondrial Disease Terminated NCT02473445 Phase 2 Cysteamine Bitartrate

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 29

Anatomical Context for Myoclonic Epilepsy Myopathy Sensory Ataxia

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

40
Brain, Cerebellum

Publications for Myoclonic Epilepsy Myopathy Sensory Ataxia

Articles related to Myoclonic Epilepsy Myopathy Sensory Ataxia:

# Title Authors PMID Year
1
POLG-related disorders and their neurological manifestations. 61
30451971 2019
2
Pathogenicity in POLG syndromes: DNA polymerase gamma pathogenicity prediction server and database. 61
28480171 2017
3
The in cis T251I and P587L POLG1 base changes: description of a new family and literature review. 61
25660390 2015
4
Clinical and molecular features of POLG-related mitochondrial disease. 61
23545419 2013
5
Mitochondrial disease and epilepsy. 61
22283595 2012
6
POLG-Related Disorders 61
20301791 2010
7
The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases. 61
16638794 2006

Variations for Myoclonic Epilepsy Myopathy Sensory Ataxia

ClinVar genetic disease variations for Myoclonic Epilepsy Myopathy Sensory Ataxia:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 POLG NM_002693.2(POLG):c.1399G>A (p.Ala467Thr)SNV Pathogenic/Likely pathogenic 13496 rs113994095 15:89870432-89870432 15:89327201-89327201
2 POLG NM_002693.2(POLG):c.2243G>C (p.Trp748Ser)SNV Conflicting interpretations of pathogenicity 13507 rs113994097 15:89866657-89866657 15:89323426-89323426
3 POLG NM_002693.2(POLG):c.1491G>C (p.Gln497His)SNV Uncertain significance 13510 rs121918052 15:89870237-89870237 15:89327006-89327006

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
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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