The patient began experiencing muscle weakness and tiredness around 9 years old. He was found to have problems with coordination (ataxia), drooping eyelids (ptosis), and rapid, uncontrolled eye movements (nystagmus). A brain MRI showed moderate atrophy of his cerebellum. His symptoms have progressed quickly and he now requires the use … read more
The participant was born preterm at 31 weeks with low birth weight. The pregnancy was complicated by twins, liver disease (cholestasis), and kidney stones. The participant’s twin had multiple birth differences and passed away at 5 months old in the NICU. The participant stayed in the NICU for 41 days … read more
The participant had a complicated pregnancy and was delivered by C-section because he was in breech position. The delivery was difficult, and he had the umbilical cord wrapped around his neck at birth. He spent 16 days after delivery in the neonatal intensive care unit (NICU) and had trouble breathing … read more
