The participant was healthy and very active until he started to notice differences in his athletic ability in his 20s. He first developed muscle weakness in his hand and then muscle twitching (fasciculations) and cramps in his arms. An EMG showed lower motor neuron disease and a muscle biopsy identified … read more
The patient was born with heart defects (atrial septal defect, ventricular septal defect) and a cleft palate. Shortly after birth, he was noticed to have different facial features, including a triangular face, eye folds (epicanthal folds), decreased creases on his hands and feet, and three bones in his thumbs instead … read more
The participant was healthy and developing normally until 10 years old when she started experiencing fatigue and weakness. She developed hive-like skin findings that covered her whole body. These went away on their own but came back over time, each time more severely than before. They were thought to be … read more
