The participant was healthy and developing normally until age 3. At this time, his parents noticed that he was walking with a waddling gait. Since then, the participant has had difficulty climbing stairs, running, and getting up from a squatted position (Gowers sign). He also has an irregular heartbeat (arrhythmia) … read more
The participant was delivered via c-section at 39 weeks 5/7 days gestation with a NICU stay of 9 days due to inhalation of amniotic fluid and meconium (meconium aspiration) and respiratory distress. The participant’s mother noted severe vomiting and nausea during pregnancy, but otherwise had normal fetal movements and prenatal … read more
At 6 months of age, the participant’s parents noticed she was not rolling over or reaching or playing with toys. They also noticed abnormal eye movements. She was eventually diagnosed with nystagmus and oculomotor apraxia. At 15 months, the participant experienced her first seizure when she had a fever (simple … read more
