Charcot-Marie-Tooth disease dominant intermediate A

A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in variation in the region 10q24.1-q25.1.

Signs and symptoms

• Distal amyotrophy
• EMG: neuropathic changes
• Areflexia
• Gait disturbance
• Axonal degeneration/regeneration
• Steppage gait
• Muscle spasm
• Onion bulb formation
• Distal muscle weakness
• Segmental peripheral demyelination/remyelination

Also known as: CMTDIA; Charcot-Marie-Tooth neuropathy dominant intermediate A; DI-CMTA; autosomal dominant intermediate Charcot-Marie-Tooth disease type A