Ptosis and Recent-onset Visual Impairment in a 32-Year-Old Man
By Aziz Shaibani, MD, FACP, FAAN
A 32-year-old man presented with ptosis since childhood and visual impairment since the age of 29. Examination is shown in the video online at PracticalNeurology.com. He also had mild proximal weakness. Ophthalmological examination revealed pigmentary changes in the retinas. ECG revealed prolonged PR interval. CPK level was 334 U/L. EMG revealed proximal myopathic changes. What tests are needed? What's the diagnosis?
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