Conditions / Musculoskeletal
Charcot-Marie-Tooth disease type 4H
info · Musculoskeletal · ICD-10: G60.0
A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutations in the gene encoding frabin (FGD4).
Signs and symptoms
- Hypoesthesia
- Decreased motor nerve conduction velocity
- Onion bulb formation
- Areflexia
- Motor delay
- Decreased number of peripheral myelinated nerve fibers
- Unsteady gait
- Scoliosis
- Talipes equinovarus
- Hyporeflexia
Also known as: CMT4H; Charcot-Marie-Tooth neuropathy type 4H; autosomal recessive Charcot-Marie-Tooth disease type 4H; autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4H