Abstract
Charcot-Marie-Tooth disease is a hereditary motor and sensory neuropathy, characterized by length-dependent axonal degeneration with distal sensory loss and weakness, deep-tendon-reflex abnormalities, and skeletal deformities. Charcot-Marie-Tooth hereditary neuropathy type 2 (CMT2) is an axonal (non-demyelinating) peripheral neuropathy characterized by distal muscle weakness and atrophy, mild sensory loss, and normal or near-normal nerve conduction velocities. We report a case of 43 year old female with genetically confirmed CMT-2OA disease having clinical involvement of facial nerve and dysphonia. These atypical features widen the clinical spectrum of CMT-2O, leading to interesting observations about DYNC1H1 gene related disorders and varied clinical expression of similar genetic mutations.
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