Charcot-Marie-Tooth disease axonal type 2C

A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.

Signs and symptoms

• Areflexia
• Distal lower limb muscle weakness
• Distal lower limb amyotrophy
• Scoliosis
• Stridor
• Urinary incontinence
• Oculomotor nerve palsy
• Foot dorsiflexor weakness
• Respiratory failure
• Shoulder girdle muscle atrophy

Also known as: CMT2C; Charcot-Marie-Tooth neuropathy type 2C; HMSN2C; autosomal cominant axonal Charcot-Marie-Tooth disease type 2C; autosomal dominant Charcot-Marie-Tooth disease type 2C