Variants
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X-linked scapuloperoneal muscular dystrophy

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Description

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.

ORDO

  • Mode of Inheritance

  • X-linked dominant inheritance

VARIANTS

5

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Genes

External Links

  • OMIM

    300695

  • Orphanet

    431272

  • HPO
  • Medgen

    C2678061

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