Conditions / Musculoskeletal
Charcot-Marie-Tooth disease X-linked recessive 2
info · Musculoskeletal · ICD-10: G60.0
A Charcot-Marie-Tooth disease X-linked that has_material_basis_in variation in the region Xp22.2.
Signs and symptoms
- Decreased motor nerve conduction velocity
- Steppage gait
- Pes cavus
- Upper limb muscle weakness
- EMG: axonal abnormality
- Areflexia
- Distal muscle weakness
- Foot dorsiflexor weakness
- Peripheral neuropathy
- Distal sensory impairment
Also known as: CMTX2; Charcot-Marie-Tooth neuropathy X-linked recessive 2; X-linked Charcot-Marie-Tooth disease type 2