Conditions / Musculoskeletal

Charcot-Marie-Tooth disease type 1F

info · Musculoskeletal · ICD-10: G60.0

A Charcot-Marie-Tooth disease type 1 that has_material_basis_in mutation in the NEFL gene.

Signs and symptoms

Myelin outfoldings
Pes cavus
Distal amyotrophy
Onion bulb formation
Distal muscle weakness
Segmental peripheral demyelination/remyelination
Distal sensory impairment
Decreased motor nerve conduction velocity
Motor delay
Decreased number of peripheral myelinated nerve fibers

Also known as: CMT1F; Charcot-Marie-Tooth neuropathy type 1F