Conditions / Musculoskeletal
Charcot-Marie-Tooth disease X-linked dominant 6
info · Musculoskeletal · ICD-10: G60.0
A Charcot-Marie-Tooth disease X-linked that has_material_basis_in mutation in the PDK3 gene on chromosome Xp22.
Signs and symptoms
- Hand muscle weakness
- Steppage gait
- Pes cavus
- Absent Achilles reflex
- Impaired distal vibration sensation
- Impaired pain sensation
- Distal lower limb amyotrophy
- Hand tremor
- Intrinsic hand muscle atrophy
- Peripheral neuropathy
Also known as: CMT6X; CMTX6; Charcot-Marie-Tooth neuropathy X-linked dominant 6; X-linked Charcot-Marie-Tooth disease type 6