HMSN2 with Giant Axons (GAN2)

Overview

23● Epidemiology: German family Genetics Mutation: Arg317Cys DCAF8 protein Substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex Clinical Onset Age: Childhood Pes cavus Polyneuropathy Weakness Distal Symmetric Legs > Arms Cramps Sensory loss Distal Pan-modal Tendon reflexes: Reduced at ankles Gait disorder Course: Slowly progressive Cardiomyopathy: Some patients LVH Conduction abnormalities Laboratory EMG: Denervation Chronic: Large motor unit potentials Distal Legs > Arms NCV Velocity: Normal or Mildly slowed CMAP amplitudes: Reduced or absent distally Nerve pathology Axon loss

OMIM Entries

External Resources