Conditions / Musculoskeletal
Charcot-Marie-Tooth disease dominant intermediate B
info · Musculoskeletal · ICD-10: G60.0
A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in mutation in the gene encoding dynamin-2 (DNM2).
Signs and symptoms
- Distal amyotrophy
- Distal muscle weakness
- Hyporeflexia
- Pes cavus
- Onion bulb formation
- Areflexia
- Segmental peripheral demyelination/remyelination
- Decreased number of peripheral myelinated nerve fibers
- Axonal degeneration
- Distal sensory impairment
Also known as: CMTDI1; CMTDIB; Charcot-Marie-Tooth neuropathy dominant intermediate B; DI-CMTB