Conditions / Musculoskeletal

Charcot-Marie-Tooth disease X-linked recessive 3

info · Musculoskeletal · ICD-10: G60.0

A Charcot-Marie-Tooth disease X-linked that has_material_basis_in variation in the region Xq26.

Signs and symptoms

  • Hip dysplasia
  • Steppage gait
  • Scoliosis
  • Pes cavus
  • Distal amyotrophy
  • Upper limb muscle weakness
  • Paraparesis
  • EMG: axonal abnormality
  • Areflexia
  • Distal muscle weakness

Also known as: CMT3X; CMTX3; Charcot-Marie-Tooth neuropathy X-linked recessive 3; X-linked Charcot-Marie-Tooth disease type 3