Dejerine-Sottas disease

Dejerine-Sottas disease (DSD), also known as Charcot-Marie-Tooth disease type 3, is a severe, demyelinating neuropathy, presenting in infancy with delayed motor development, very slow nerve conduction velocities and elevated CSF protein. Progression is severe and walking ability is lost early. Hypomyelination and classic onion bulbs are the pathological hallmarks. Mutations in MPZ, PMP22, EGR2, and PRX are the most common causes of DSD. In more than 50% of cases, a causative genetic mutation cannot be identified.