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 full term and weighed 4lb 0oz. Before birth, she was diagnosed with growth delay (intrauterine growth restriction) and a single umbilical artery. During pregnancy, her mother had severe nausea and vomiting (hyperemesis gravidarum), which led to her losing 75 pounds during the first two trimesters. When … read more
The participant was born at 33 weeks and stayed in the NICU for three weeks. While in the NICU, she received breathing and nutrition support though a CPAP (Continuous Positive Airway Pressure) machine and NG (nasogastric) tube. She was identified by newborn screening to have very low T-cell lymphocyte levels. … read more
