Conditions / Musculoskeletal
Charcot-Marie-Tooth disease type 2B2
info · Musculoskeletal · ICD-10: G60.0
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the MED25 gene.
Signs and symptoms
- Hyporeflexia
- Decreased motor nerve conduction velocity
- Distal amyotrophy
- Areflexia
- Distal muscle weakness
- Distal sensory impairment
Also known as: AR-CMT2B2; ARCMT2B; Autosomal recessive axonal CMT4C3; CMT2B2; Charcot-Marie-Tooth disease neuronal type 2B2