Conditions / Musculoskeletal
Charcot-Marie-Tooth disease axonal type 2V
info · Musculoskeletal
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NAGLU gene on chromosome 17q21.
Signs and symptoms
- Lower limb pain
- Sleep disturbance
- Impaired vibratory sensation
- Paresthesia
- Peripheral neuropathy
- Distal sensory impairment
- Hyporeflexia
- Sensory ataxia
- Nystagmus
- Muscle weakness
Also known as: CMT2V; Charcot-Marie-Tooth neuropathy type 2V; autosomal dominant Charcot-Marie-Tooth disease type 2V; autosomal dominant axonal Charcot-Marie-Tooth disease type 2V