Charcot-Marie-Tooth disease type 2

A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell.

Signs and symptoms

• Degeneration of anterior horn cells
• Gait disturbance
• Muscle spasm
• Areflexia
• Fasciculations
• Gliosis
• Decreased number of peripheral myelinated nerve fibers
• Mildly elevated creatine kinase
• Axonal degeneration
• Peripheral neuropathy

Also known as: hereditary motor and sensory neuropathy Guadalajara neuronal type; hereditary motor and sensory neuropathy Okinawa type; hereditary motor and sensory neuropathy type 2