Charcot-Marie-Tooth disease type 1G

A Charcot-Marie-Tooth disease type 1 characterized by distal muscle weakness and atrophy with onset in the first or second decade of life that has_material_basis_in heterozygous mutation in the PMP2 gene on chromosome 8q21.13.

Signs and symptoms

• Pes cavus
• Distal amyotrophy
• Onion bulb formation
• Distal muscle weakness
• Fatty replacement of skeletal muscle
• Peripheral demyelination
• Decreased compound muscle action potential amplitude
• Distal lower limb muscle weakness
• Distal sensory impairment
• Impaired distal vibration sensation

Also known as: CMT1G; PMP2-related CMT1; PMP2-related Charcot-Marie-Tooth disease type 1; PMP2-related Charcot-Marie-Tooth neuropathy type 1; PMP2-related hereditary motor and sensory neuropathy type 1