Charcot-Marie-Tooth disease recessive intermediate C

Rare Disease

MONDO:0014154

Also Known As

CMTRICCharcot-Marie-Tooth disease caused by mutation in PLEKHG5Charcot-Marie-Tooth disease recessive intermediate type CCharcot-Marie-Tooth disease, recessive Intermediate type CPLEKHG5 Charcot-Marie-Tooth diseaseRI-CMT type CRI-CMTCautosomal recessive intermediate Charcot-Marie-Tooth disease type CCharcot-Marie-Tooth disease, recessive intermediate CCharcot-Marie-Tooth neuropathy, recessive Intermediate C

Definition

Autosomal recessive intermediate Charcot-Marie-Tooth disease type C is a rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by childhood to adulthood-onset of progressive, moderate to severe, predominantly distal, mostly lower limb muscle weakness and atrophy, foot deformities (including pes cavus and hammer toes), absent deep tendon reflexes and distal sensory loss associated with decreased motor and sensory nerve conduction velocities and features of both demyelinating and axonal neuropathy on sural nerve biopsy.