Conditions / Musculoskeletal
Charcot-Marie-Tooth disease dominant intermediate G
info · Musculoskeletal
A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the NEFL gene on chromosome 8p21.
Signs and symptoms
- Hyporeflexia
- Elevated circulating creatine kinase activity
- Steppage gait
- Distal muscle weakness
- Motor delay
- Split hand
- Nystagmus
- Sensorimotor neuropathy
- Distal sensory impairment
- Waddling gait