Charcot-Marie-Tooth disease type 4A

A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the gene encoding ganglioside-induced differentiation-associated protein-1 (GDAP1) on chromosome 8q21.

Signs and symptoms

• Decreased motor nerve conduction velocity
• Onion bulb formation
• Distal muscle weakness
• Decreased number of peripheral myelinated nerve fibers
• Decreased sensory nerve conduction velocity
• Segmental peripheral demyelination
• Kyphoscoliosis
• Basal lamina onion bulb formation
• Hyporeflexia
• Ulnar claw

Also known as: CMT4A; Charcot-Marie-Tooth neuropathy type 4A; autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4A