Charcot-Marie-Tooth disease axonal type 2K

A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the GDAP1 gene on chromosome 8q.

Signs and symptoms

• Kyphoscoliosis
• Talipes equinovarus
• Decreased motor nerve conduction velocity
• Distal amyotrophy
• Areflexia
• Distal muscle weakness
• Axonal regeneration
• Split hand
• Decreased number of peripheral myelinated nerve fibers
• Distal sensory impairment

Also known as: ARCMT2K; Charcot-Marie-Tooth neuropathy axonal type 2K; autosomal recessive Charcot-Marie-Tooth disease with hoarseness; autosomal recessive axonal CMT4C4; autosomal recessive axonal Charcot-Marie-Tooth disease disease type 2K