As a child, the participant was found to have webbed toes (syndactyly) and flat feet. He had surgery for flat feet when he was 12 years old, which included bone grafts and an Achilles tendon release. Around this time he was also diagnosed with a mild curvature of the spine … read more
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 noted to have a brain abnormality (agenesis of the corpus callosum) on a fetal ultrasound. Further testing during the pregnancy was positive for mosaic Turner syndrome. At two days old, the participant began experiencing diarrhea. At 5 weeks old, she was admitted to the hospital for severe … read more
