Conditions / Musculoskeletal
Charcot-Marie-Tooth disease type 2I
info · Musculoskeletal · ICD-10: G60.0
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23.
Signs and symptoms
- Hyporeflexia
- Axonal degeneration/regeneration
- Steppage gait
- Pes cavus
- Distal amyotrophy
- Upper limb muscle weakness
- Areflexia
- Distal muscle weakness
- Distal sensory impairment
- Decreased number of peripheral myelinated nerve fibers
Also known as: CMT2I; Charcot-Marie-Tooth neuropathy type 2I