MCID: MSC149
MIFTS: 8

Muscular Dystrophy, Adult-Onset, with Leukoencephalopathy

Categories: Muscle diseases

Aliases & Classifications for Muscular Dystrophy, Adult-Onset, with Leukoencephalopathy

MalaCards integrated aliases for Muscular Dystrophy, Adult-Onset, with Leukoencephalopathy:

Name: Muscular Dystrophy, Adult-Onset, with Leukoencephalopathy 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
muscular dystrophy, adult-onset, with leukoencephalopathy:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Muscular Dystrophy, Adult-Onset, with Leukoencephalopathy

MalaCards based summary : Muscular Dystrophy, Adult-Onset, with Leukoencephalopathy Related phenotypes are seizures and muscle weakness

Description from OMIM: 253590

Related Diseases for Muscular Dystrophy, Adult-Onset, with Leukoencephalopathy

Symptoms & Phenotypes for Muscular Dystrophy, Adult-Onset, with Leukoencephalopathy

Human phenotypes related to Muscular Dystrophy, Adult-Onset, with Leukoencephalopathy:

33
# Description HPO Frequency HPO Source Accession
1 seizures 33 HP:0001250
2 muscle weakness 33 HP:0001324
3 gait ataxia 33 HP:0002066
4 muscular dystrophy 33 HP:0003560
5 leukoencephalopathy 33 HP:0002352

Symptoms via clinical synopsis from OMIM:

58
Neuro:
seizures
progressive spastic ataxic gait

Radiology:
leukoencephalopathy by ct and mri

Muscle:
adult-onset, predominantly distal, muscle weakness

Clinical features from OMIM:

253590

Drugs & Therapeutics for Muscular Dystrophy, Adult-Onset, with Leukoencephalopathy

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy, Adult-Onset, with Leukoencephalopathy

Genetic Tests for Muscular Dystrophy, Adult-Onset, with Leukoencephalopathy

Anatomical Context for Muscular Dystrophy, Adult-Onset, with Leukoencephalopathy

Publications for Muscular Dystrophy, Adult-Onset, with Leukoencephalopathy

Variations for Muscular Dystrophy, Adult-Onset, with Leukoencephalopathy

Expression for Muscular Dystrophy, Adult-Onset, with Leukoencephalopathy

Search GEO for disease gene expression data for Muscular Dystrophy, Adult-Onset, with Leukoencephalopathy.

Pathways for Muscular Dystrophy, Adult-Onset, with Leukoencephalopathy

GO Terms for Muscular Dystrophy, Adult-Onset, with Leukoencephalopathy

Sources for Muscular Dystrophy, Adult-Onset, with Leukoencephalopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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