Dr. Allison Edgecombe

Resident PGY4

Case One

Overview

Clinical history: This 54-year old female has a past medical history significant for bilateral progressive ptosis, dysphagia and ataxia. Physical examination revealed bilateral temporalis muscle wasting and facial weakness. Horizontal, upward and downward gaze were all significantly restricted. Upper and lower extremity strength and reflexes were unremarkable. The electrophysiologic tests were abnormal and consistent with a clinical diagnosis of a myopathy involving facial muscles. A quadriceps muscle biopsy was performed.

What is the most probable diagnosis?


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