Charcot-Marie-Tooth disease type 4F

A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the periaxin gene (PRX) on chromosome 19q13.

Signs and symptoms

• Enlarged cisterna magna
• Scoliosis
• Onion bulb formation
• Decreased motor nerve conduction velocity
• Steppage gait
• Distal amyotrophy
• Gait ataxia
• Distal muscle weakness
• Limb muscle weakness
• Motor delay

Also known as: CMT4F