I put together these medical challenges. The cases are hypothetical and do not necessarily represent actual or typical presentations of medical diseases. Disclaimer is at the bottom of this page.
Monday, March 4, 2013
An adolescent presents to your pediatrics clinic with fatigue. Her parents think she just doesn't like gym class, but she truly has exercise intolerance, myalgias, and poor endurance. On exam, you note muscle swelling and weakness after brief periods of intense isometric exercise. However, after a short break, the patient can resume physical activity without significant symptoms. Over the next few visits, you check CKs and they are always elevated; she also has intermittent myoglobinuria.
Challenge: What's the autosomal recessive disease described here?
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