Her husband and friends have noticed that her voice has become quieter. She has lost about 3 kg in weight in the past 6 months. The woman has had no significant previous medical illnesses. She lives with her husband and three children. She is a non-smoker and drinks about 15 units of alcohol per week. She is taking no regular medication.
She looks well, and examination of the cardiovascular, respiratory and abdominal systems is normal. Power in all muscle groups is grossly normal but seems to decrease after testing a movement repetitively. Tone, coordination, reflexes, and sensation are normal. Bilateral ptosis is present and is exacerbated by prolonged upward gaze. Pupillary reflexes, eye movements, and funduscopy are normal.
- What is the diagnosis?
- What are the major differential diagnoses?
- How would you investigate and manage this patient?
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