MCID: MYP056
MIFTS: 24

Myopathy, X-Linked, with Postural Muscle Atrophy

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

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

MalaCards integrated aliases for Myopathy, X-Linked, with Postural Muscle Atrophy:

Name: Myopathy, X-Linked, with Postural Muscle Atrophy 53 71 69
Emery-Dreifuss Muscular Dystrophy 6, X-Linked 53 71 28 13 69
Xmpma 53 55 71
X-Linked Myopathy with Postural Muscle Atrophy 55 36
Myopathy with Postural Muscle Atrophy, X-Linked 28
Edmd6 71
Emd6 71

Characteristics:

Orphanet epidemiological data:

55
x-linked myopathy with postural muscle atrophy
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: adult,elderly;

OMIM:

53
Miscellaneous:
progressive disorder
onset in late childhood or adulthood

Inheritance:
x-linked recessive


HPO:

31
myopathy, x-linked, with postural muscle atrophy:
Onset and clinical course progressive
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 55  
Rare neurological diseases


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

UniProtKB/Swiss-Prot : 71 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 myopathy, and has symptoms including short neck, flexion contracture and hypertrophic cardiomyopathy. An important gene associated with Myopathy, X-Linked, with Postural Muscle Atrophy is FHL1 (Four And A Half LIM Domains 1).

OMIM : 53 X-linked myopathy with postural muscle atrophy (XMPMA) is 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 (Windpassinger et al., 2008). The clinical features of Emery-Dreifuss muscular dystrophy (see EDMD1; 310300) classically include the triad of muscle weakness, joint contractures, and cardiac involvement, thus showing clinical overlap with XMPMA (Gueneau et al., 2009). (300696)

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:

# Related Disease Score Top Affiliating Genes
1 myopathy 9.9

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

Symptoms via clinical synopsis from OMIM:

53
Skeletal Spine:
back pain
rigid spine
bent spine

Respiratory:
respiratory insufficiency

Chest RibsSternum Clavicles And Scapulae:
scapular winging

Skeletal:
joint contractures

Respiratory Larynx:
vocal cord palsy

Head And Neck Neck:
short neck
limited range of neck motion

Cardiovascular Heart:
hypertrophic cardiomyopathy
conduction defects
arrhythmias

Muscle Soft Tissue:
rimmed vacuoles
scapuloperoneal weakness
muscle weakness, proximal, progressive
pseudoathletic appearance with muscle hypertrophy before disease onset
muscle atrophy later in the disease
more
Laboratory Abnormalities:
increased serum creatine kinase


Clinical features from OMIM:

300696

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

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 short neck 31 HP:0000470
2 flexion contracture 31 HP:0001371
3 hypertrophic cardiomyopathy 31 HP:0001639
4 respiratory insufficiency 31 HP:0002093
5 elevated serum creatine phosphokinase 31 HP:0003236
6 spinal rigidity 31 HP:0003306
7 back pain 31 HP:0003418
8 scapular winging 31 HP:0003691
9 proximal muscle weakness 31 HP:0003701
10 scapuloperoneal weakness 31 HP:0003704
11 rimmed vacuoles 31 HP:0003805
12 arrhythmia 31 HP:0011675

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


back pain

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

Search Clinical Trials , 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:

# Genetic test Affiliating Genes
1 Myopathy with Postural Muscle Atrophy, X-Linked 28 FHL1
2 Emery-Dreifuss Muscular Dystrophy 6, X-Linked 28

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

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

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

# Title Authors Year
1
An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1. ( 18179888 )
2008

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

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

71
# 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
# 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
6 FHL1 NM_001449.4(FHL1): c.418_422delAGCTT (p.Ser140Leufs) deletion Pathogenic GRCh37 Chromosome X, 135290037: 135290041

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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