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 early at 34 weeks, but was healthy for the first few months of life. At the age of three and a half months, he had a fever that required hospital admission. Since then, he has experienced involuntary muscle contractions (dystonia) and has not been able to … 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
