SPMM
MCID: SCP012
MIFTS: 35
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Scapuloperoneal Myopathy, Myh7-Related (SPMM)
Categories:
Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Scapuloperoneal Myopathy, Myh7-Related:
Characteristics:Orphanet epidemiological data:58
myh7-related late-onset scapuloperoneal muscular dystrophy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: Not yet documented; HPO:31
scapuloperoneal myopathy, myh7-related:
Inheritance autosomal dominant inheritance Onset and clinical course slow progression Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Muscle diseases
ICD10:
33
Orphanet: 58
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NIH Rare Diseases :
52
MYH7 -related scapuloperoneal myopathy is an inherited muscular dystrophy characterized by weakness and wasting of the muscles in the lower legs and the area of the shoulder blades. In some individuals, facial muscles may also be affected. While the progression varies from case to case, it tends to be relatively slow. Some cases of scapuloperoneal myopathy are caused by mutations in the MYH7 gene . Autosomal dominant inheritance is suggested in these cases. Treatment is symptomatic and supportive.
MalaCards based summary : Scapuloperoneal Myopathy, Myh7-Related, also known as myh7-related late-onset scapuloperoneal muscular dystrophy, is related to late-onset scapuloperoneal muscular dystrophy with hyaline bodies and scapuloperoneal myopathy, x-linked dominant, and has symptoms including waddling gait An important gene associated with Scapuloperoneal Myopathy, Myh7-Related is MYH7 (Myosin Heavy Chain 7). Affiliated tissues include heart, skeletal muscle and pituitary, and related phenotypes are elevated serum creatine kinase and increased variability in muscle fiber diameter UniProtKB/Swiss-Prot : 73 Scapuloperoneal myopathy MYH7-related: Progressive muscular atrophia beginning in the lower legs and affecting the shoulder region earlier and more severely than distal arm.
More information from OMIM:
181430
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Human phenotypes related to Scapuloperoneal Myopathy, Myh7-Related:58 31 (show all 49)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:181430UMLS symptoms related to Scapuloperoneal Myopathy, Myh7-Related:waddling gait |
Interventional clinical trials:
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Genetic tests related to Scapuloperoneal Myopathy, Myh7-Related:
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MalaCards organs/tissues related to Scapuloperoneal Myopathy, Myh7-Related:40
Heart,
Skeletal Muscle,
Pituitary
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Articles related to Scapuloperoneal Myopathy, Myh7-Related:(show all 21)
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ClinVar genetic disease variations for Scapuloperoneal Myopathy, Myh7-Related:6 (show all 21)
UniProtKB/Swiss-Prot genetic disease variations for Scapuloperoneal Myopathy, Myh7-Related:73
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Search
GEO
for disease gene expression data for Scapuloperoneal Myopathy, Myh7-Related.
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