Charcot-Marie-Tooth disease recessive intermediate C

A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous or compound heterozygous mutation in the PLEKHG5 gene on chromosome 1p36.

Signs and symptoms

• Decreased number of large peripheral myelinated nerve fibers
• Decreased motor nerve conduction velocity
• Scoliosis
• Steppage gait
• Pes cavus
• Distal amyotrophy
• Somatic sensory dysfunction
• Areflexia
• Distal muscle weakness
• Mildly elevated creatine kinase

Also known as: CMTRIC; RI-CMT type C; RI-CMTC; autosomal recessive intermediate Charcot-Marie-Tooth disease type C