Charcot-Marie-Tooth disease recessive intermediate A
Charcot-Marie-Tooth disease recessive intermediate A
Definition
Autosomal recessive intermediate Charcot-Marie-Tooth disease type A is a subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by severe, early childhood-onset CMT neuropathy with prominent pes equinovarus deformity and impairment of hand muscles. Nerve conduction velocities usually range between 25-35 m/s and both axonal and demyelinating changes are observed on peripheral nerve pathology.
Also known as autosomal recessive intermediate Charcot-Marie-Tooth disease type A, Charcot-Marie-Tooth disease caused by mutation in GDAP1, Charcot-Marie-Tooth disease recessive intermediate type A, Charcot-Marie-Tooth disease, recessive Intermediate type a, CMTRIA, GDAP1 Charcot-Marie-Tooth disease, RI-CMT type A, RI-CMTA — per MONDO