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
The participant first developed symptoms at age 26, though it is possible that there were some symptoms earlier in her life as well. During a period of intense stress, she suddenly had difficulty speaking (dysarthria), muscle weakness, difficulty walking, poor coordination and muscle spasms. At this time, she also developed … read more
Early in life, the participant met most developmental milestones, although he began walking at 18 months. Most of his symptoms did not appear until age 35 when he started to experience memory loss, dizziness, and slurred speech (dysarthria). A few years later, the participant began to have balance difficulties (ataxia), … read more
