Charcot-Marie-Tooth disease axonal type 2X

A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the SPG11 gene on chromosome 15q21.

Signs and symptoms

• Distal lower limb muscle weakness
• Pes cavus
• Distal lower limb amyotrophy
• Gait disturbance
• Kyphoscoliosis
• Distal upper limb muscle weakness
• Peripheral axonal neuropathy
• Distal sensory impairment
• Ankle flexion contracture
• Foot dorsiflexor weakness

Also known as: Charcot-Marie-Tooth neuropathy type 2X; autosomal recessive axonal Charcot-Marie-Tooth disease type 2X