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
The participant was born at full term with no complications during pregnancy. He had jaundice during the neonatal period, which was treated with a Biliblanket. At 2 months of age, his pediatrician noticed a decline in weight gain and diagnosed him with failure to thrive. The participant was followed for … read more
The participant first noticed muscle weakness in his left calf at 42 years old. After 8 months, the participant had difficulty with both legs going up stairs. This progressed to involve weakness in the arms and legs and trouble getting up from a chair. The participant had an MRI of … read more
