XMPMA
MCID: MYP056
MIFTS: 27

Myopathy, X-Linked, with Postural Muscle Atrophy (XMPMA) malady

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Muscle diseases

Aliases & Classifications for Myopathy, X-Linked, with Postural Muscle Atrophy

Aliases & Descriptions for Myopathy, X-Linked, with Postural Muscle Atrophy:

Name: Myopathy, X-Linked, with Postural Muscle Atrophy 54 66 69
Emery-Dreifuss Muscular Dystrophy 6, X-Linked 54 66 13 69
Xmpma 24 56 66
X-Linked Myopathy with Postural Muscle Atrophy 56 29
Myopathy with Postural Muscle Atrophy, X-Linked 24
Edmd6 66
Emd6 66

Characteristics:

Orphanet epidemiological data:

56
x-linked myopathy with postural muscle atrophy
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: adult,elderly;

HPO:

32
myopathy, x-linked, with postural muscle atrophy:
Onset and clinical course progressive
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 300696
Orphanet 56 ORPHA178461
ICD10 via Orphanet 34 G71.0
MeSH 42 D020389

Summaries for Myopathy, X-Linked, with Postural Muscle Atrophy

UniProtKB/Swiss-Prot : 66 Emery-Dreifuss muscular dystrophy 6, X-linked: A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects. Myopathy, X-linked, with postural muscle atrophy: A progressive muscular dystrophy with onset in adulthood. Affected individuals develop a proximal myopathy characterized by specific atrophy of postural muscles, limited neck flexion, bent spine, contractures of the Achilles tendon, respiratory problems, and cardiomyopathy. Patients may show muscle hypertrophy in the early stages of the disorder.

MalaCards based summary : Myopathy, X-Linked, with Postural Muscle Atrophy, also known as emery-dreifuss muscular dystrophy 6, x-linked, is related to fhl1-related emery-dreifuss muscular dystrophy, x-linked and emery-dreifuss muscular dystrophy 1, x-linked, and has symptoms including back pain, short neck and respiratory insufficiency. An important gene associated with Myopathy, X-Linked, with Postural Muscle Atrophy is FHL1 (Four And A Half LIM Domains 1). The drugs Anti-Bacterial Agents and Antibiotics, Antitubercular have been mentioned in the context of this disorder.

OMIM : 54 X-linked myopathy with postural muscle atrophy (XMPMA) is a progressive muscular dystrophy with onset in adulthood.... (300696) more...

Related Diseases for Myopathy, X-Linked, with Postural Muscle Atrophy

Diseases related to Myopathy, X-Linked, with Postural Muscle Atrophy via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 fhl1-related emery-dreifuss muscular dystrophy, x-linked 11.4
2 emery-dreifuss muscular dystrophy 1, x-linked 10.9
3 myopathy 9.9

Symptoms & Phenotypes for Myopathy, X-Linked, with Postural Muscle Atrophy

Symptoms by clinical synopsis from OMIM:

300696

Clinical features from OMIM:

300696

Human phenotypes related to Myopathy, X-Linked, with Postural Muscle Atrophy:

32 (show all 12)
id Description HPO Frequency HPO Source Accession
1 back pain 32 HP:0003418
2 short neck 32 HP:0000470
3 respiratory insufficiency 32 HP:0002093
4 flexion contracture 32 HP:0001371
5 hypertrophic cardiomyopathy 32 HP:0001639
6 elevated serum creatine phosphokinase 32 HP:0003236
7 arrhythmia 32 HP:0011675
8 scapular winging 32 HP:0003691
9 spinal rigidity 32 HP:0003306
10 proximal muscle weakness 32 HP:0003701
11 rimmed vacuoles 32 HP:0003805
12 scapuloperoneal weakness 32 HP:0003704

UMLS symptoms related to Myopathy, X-Linked, with Postural Muscle Atrophy:


back pain

Drugs & Therapeutics for Myopathy, X-Linked, with Postural Muscle Atrophy

Drugs for Myopathy, X-Linked, with Postural Muscle Atrophy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Anti-Bacterial Agents Phase 4
2 Antibiotics, Antitubercular Phase 4

Interventional clinical trials:


id Name Status NCT ID Phase
1 Stacking Exercises Aid the Decline in FVC and Sick Time Active, not recruiting NCT01999075 Phase 4

Search NIH Clinical Center for Myopathy, X-Linked, with Postural Muscle Atrophy

Genetic Tests for Myopathy, X-Linked, with Postural Muscle Atrophy

Genetic tests related to Myopathy, X-Linked, with Postural Muscle Atrophy:

id Genetic test Affiliating Genes
1 Myopathy with Postural Muscle Atrophy, X-Linked 29 24 FHL1

Anatomical Context for Myopathy, X-Linked, with Postural Muscle Atrophy

Publications for Myopathy, X-Linked, with Postural Muscle Atrophy

Variations for Myopathy, X-Linked, with Postural Muscle Atrophy

UniProtKB/Swiss-Prot genetic disease variations for Myopathy, X-Linked, with Postural Muscle Atrophy:

66
id Symbol AA change Variation ID SNP ID
1 FHL1 p.Cys224Trp VAR_042605 rs122458141
2 FHL1 p.Cys209Arg VAR_075357 rs122459149
3 FHL1 p.Cys276Tyr VAR_075358
4 FHL1 p.Val280Met VAR_075359 rs267606811

ClinVar genetic disease variations for Myopathy, X-Linked, with Postural Muscle Atrophy:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 FHL1 NM_001159702.2(FHL1): c.672C> G (p.Cys224Trp) single nucleotide variant Pathogenic rs122458141 GRCh37 Chromosome X, 135290784: 135290784
2 FHL1 FHL1, 3-BP INS, 381ATC insertion Pathogenic
3 FHL1 NM_001159702.2(FHL1): c.838G> A (p.Val280Met) single nucleotide variant Pathogenic rs267606811 GRCh37 Chromosome X, 135291551: 135291551
4 FHL1 NM_001449.4(FHL1): c.688+1G> A single nucleotide variant Pathogenic rs786200914 GRCh37 Chromosome X, 135290801: 135290801
5 FHL1 NM_001449.4(FHL1): c.60delG (p.Gln21Lysfs) deletion Pathogenic rs1060502840 GRCh38 Chromosome X, 136206492: 136206492

Expression for Myopathy, X-Linked, with Postural Muscle Atrophy

Search GEO for disease gene expression data for Myopathy, X-Linked, with Postural Muscle Atrophy.

Pathways for Myopathy, X-Linked, with Postural Muscle Atrophy

GO Terms for Myopathy, X-Linked, with Postural Muscle Atrophy

Sources for Myopathy, X-Linked, with Postural Muscle Atrophy

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7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
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42 MeSH
43 MESH via Orphanet
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48 NDF-RT
51 NINDS
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59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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