Conditions / Musculoskeletal
Charcot-Marie-Tooth disease axonal type 2P
info · Musculoskeletal · ICD-10: G60.0
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or heterozygous mutation in the LRSAM1 gene on chromosome 9q33.
Signs and symptoms
- Hyporeflexia
- Axonal degeneration/regeneration
- Steppage gait
- Decreased motor nerve conduction velocity
- Pes cavus
- Distal amyotrophy
- Distal muscle weakness
- Areflexia
- Fasciculations
- Axonal degeneration
Also known as: CMT2P; Charcot-Marie-Tooth disease type 2P; Charcot-Marie-Tooth neuropathy type 2P