Charcot-Marie-Tooth disease recessive intermediate A

Rare Disease

MONDO:0012014

Also Known As

CMTRIACharcot-Marie-Tooth disease caused by mutation in GDAP1Charcot-Marie-Tooth disease recessive intermediate type ACharcot-Marie-Tooth disease, recessive Intermediate type aCharcot-Marie-Tooth neuropathy recessive intermediate AGDAP1 Charcot-Marie-Tooth diseaseRI-CMT type ARI-CMTAautosomal recessive intermediate Charcot-Marie-Tooth disease type ACharcot-Marie-Tooth disease, recessive intermediate ACharcot-Marie-Tooth disease, recessive intermediate, ACharcot-Marie-Tooth neuropathy, recessive Intermediate aRi-Cmta

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.