Unilateral oculomotor palsy in Charcot-Marie-Tooth disease 1A (CMT 1A)

Charcot-Marie-Tooth disease (CMT) type 1A is the most common form of CMT 1 and one of the autosomal dominant demyelinating hereditary motor and sensory neuropathies (HMSN). Clinical signs commonly comprise those of length-dependent neuropathy, i.e. progressive muscle weakness, atrophy and pareses of distal limb muscles, loss of ankle reflex responses, and sensory loss in feet and hands. CMT 1A becomes manifest in the second decade of life and is most often diagnosed clinically. It is linked with DNA duplication of peripheral myelin protein 22 gene (PMP-22) on chromosome 17p11.2 in the majority of cases [1].

Source: Clinical Neurology and Neurosurgery - February 11, 2017 Category: Neurosurgery Authors: A. Posa, A. Emmer, M.E. Kornhuber Tags: Case Report Source Type: research