Scapuloperoneal Myopathy, X-Linked Dominant (SPM) malady

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OMIM 54 300695 Orphanet 56 ORPHA431272 ICD10 via Orphanet 34 G71.0

MedGen 40 C2678061 MeSH 42 D020389

NIH Rare Diseases : ⁵⁰ x-linked 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 fhl1 gene. these cases are inherited in an x-linked dominant manner. treatment is symptomatic and supportive. last updated: 8/9/2012

MalaCards based summary : Scapuloperoneal Myopathy, X-Linked Dominant, also known as spm, is related to secondary progressive multiple sclerosis and emd-related emery-dreifuss muscular dystrophy, x-linked, and has symptoms including waddling gait, lower limb muscle weakness and flexion contracture. An important gene associated with Scapuloperoneal Myopathy, X-Linked Dominant is FHL1 (Four And A Half LIM Domains 1). Affiliated tissues include skeletal muscle, and related phenotype is muscle.

UniProtKB/Swiss-Prot : ⁶⁶ Scapuloperoneal myopathy, X-linked dominant: A disease characterized by progressive muscle weakness and wasting, upper and lower limbs weakness, foot drop, scapular winging, and myopathic changes on muscle biopsy. Most affected individuals become wheelchair-bound.

Description from OMIM: 300695

Symptoms by clinical synopsis from OMIM:

300695

Clinical features from OMIM:

300695

Search Clinical Trials , NIH Clinical Center for Scapuloperoneal Myopathy, X-Linked Dominant

Search GEO for disease gene expression data for Scapuloperoneal Myopathy, X-Linked Dominant.