The participant was born full-term after an uncomplicated pregnancy, labor, and delivery. At 4 months old, the participant was noted to have poor muscle control and low muscle tone. She began physical therapy at that time. The participant experienced delays in motor development and does not walk independently. The participant … read more
Early in life the participant had typical development, but held a pen in a unique way and ran with his fingers and hands outstretched. At age 21, he began to speak in a whisper. This difficulty speaking (dysphonia) progressed for 1-2 years, but later stabilized. At age 29, the participant … read more
At age 45, the patient started to have pain in her abdomen. She was found to have an aneurysm in the blood vessel that supplies blood to the spleen (splenic artery aneurysm) and underwent surgery. At this time, she was also found to have inflammation in her gallbladder (cholecystitis), which … read more
