Conditions / Musculoskeletal
Charcot-Marie-Tooth disease type 2A2A
info · Musculoskeletal · ICD-10: G60.0
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MFN2 gene on chromosome 1p36.22.
Signs and symptoms
- Hypertonia
- Axonal degeneration/regeneration
- Steppage gait
- Decreased motor nerve conduction velocity
- Distal amyotrophy
- Flexion contracture
- Distal muscle weakness
- Limb muscle weakness
- Pain
- Foot dorsiflexor weakness
Also known as: CMT2A2A; Charcot-Marie-Tooth neuronal type 2A2; Charcot-Marie-Tooth neuropathy type 2A2; HMSN IIA2; HMSN2A2