Charcot-Marie-Tooth disease X-linked recessive 5

A Charcot-Marie-Tooth disease X-linked that has_material_basis_in loss-of-function mutation in the PRPS1 gene on chromosome Xq22.

Signs and symptoms

• Hearing impairment
• Decreased phosphoribosylpyrophosphate synthetase level
• Progressive visual loss
• Gait disturbance
• Pes cavus
• Distal amyotrophy
• Polyneuropathy
• Onion bulb formation
• Distal muscle weakness
• Segmental peripheral demyelination/remyelination

Also known as: CMT5X; CMTX5; Charcot-Marie-Tooth neuropathy X-linked recessive 5; Rosenberg-Chutorian syndrome; X-linked Charcot-Marie-Tooth disease type 5