The patient was in excellent health until age 45 when she started to notice muscle weakness and difficulty keeping up while playing sports. Her muscle weakness has continued to worsen and she now has balance problems, muscle twitching (fasciculations) and cramps, and difficulty with coordination. She has significant respiratory muscle … read more
The participant was born with an undescended testis (unilateral cryptorchidism) and scrotal webbing but was otherwise healthy. When he was 6 weeks old, his parents became concerned that he seemed less alert. An eye exam at this time showed that he had visual impairment. He was also noticed to have … read more
The participant was born with multiple heart abnormalities (coarctation of the aorta, bicuspid aortic valve, ventricular septal defect) and was diagnosed with Wolff-Parkinson-White syndrome at 5 months old. Also at 5 months old, he was diagnosed with acute lymphoblastic leukemia (ALL) and was treated with chemotherapy, total body irradiation, and … read more
