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GTR Home > Conditions/Phenotypes > X-linked scapuloperoneal muscular dystrophy

X-linked scapuloperoneal muscular dystrophy

Synonyms
SCAPULOPERONEAL MYOPATHY, FHL1-RELATED; Scapuloperoneal myopathy, X-linked dominant
Modes of inheritance
X-linked dominant inheritance (Orphanet)

Summary

A rare, genetic, muscular dystrophy disease characterized by the co-occurrence of late onset scapular and peroneal muscle weakness, principally manifesting with distal lower limb and proximal upper limb weakness and scapular winging. [from ORDO]

Available tests

48 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (48 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: FCMSU, FHL-1, FHL1A, FHL1B, FLH1A, KYOT, RBMX1A, RBMX1B, SLIM, SLIM-1, SLIM1, SLIMMER, XMPMA, FHL1
    Summary: four and a half LIM domains 1

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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