Charcot-Marie-Tooth disease X-linked dominant 1

A Charcot-Marie-Tooth disease X-linked that has_material_basis_in hemizygous or heterozygous mutation in the GJB1 gene on chromosome Xq13.

Signs and symptoms

• Decreased motor nerve conduction velocity
• Distal muscle weakness
• Onion bulb formation
• Decreased number of peripheral myelinated nerve fibers
• Gait disturbance
• Absent Achilles reflex
• Distal lower limb muscle weakness
• Achilles tendon contracture
• Distal upper limb amyotrophy
• Pes cavus

Also known as: CMT1X; CMTX1; Charcot-Marie-Tooth neuropathy X-linked dominant 1; X-linked Charcot-Marie-Tooth disease type 1