Charcot-Marie-Tooth disease type 6

A Charcot-Marie-Tooth disease that is characterized by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity.

Signs and symptoms

• Distal amyotrophy
• Distal muscle weakness
• Distal sensory impairment
• Proximal muscle weakness
• Hyporeflexia
• Optic atrophy
• Peripheral axonal neuropathy
• Axonal degeneration/regeneration
• Decreased motor nerve conduction velocity
• Tinnitus

Also known as: hereditary motor and sensory neuropathy type 6