Charcot-Marie-Tooth disease type 2E

A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the light polypeptide neurofilament protein gene (NEFL) on chromosome 8p21.

Signs and symptoms

• Distal amyotrophy
• Lower limb muscle weakness
• Distal sensory impairment
• Impaired pain sensation
• Gait disturbance
• Onion bulb formation
• Areflexia
• Impaired distal vibration sensation
• Decreased motor nerve conduction velocity
• Steppage gait

Also known as: CMT2E; Charcot-Marie-Tooth neuropathy type 2E; autosomal dominant Charcot-Marie-Tooth disease type 2E