307 Phenotypic-genotypic expansion of plectinopathy in a patient with muscular dystrophy and immune-mediated myasthenia gravis

Abstract

A 26-year-old female presented with blistering skin lesions since infancy, hair loss, proximal motor weakness, nasal tone speech, swallowing problem, and droopy eyes. Upon neurological examination, normal cognition, inability to walk unassisted, bilateral ptosis with a full range of extraocular movements, weak gag reflex, generalized muscle atrophy, and decreased deep tendon reflexes were detected. Her electromyography revealed small polyphasic muscle unit action potentials, minimal insertional activities, myopathic changes, motor, and sensory increased latency, decreased amplitude, reduced velocity, and normal F wave.