Around 5 months old, the participant was noticed to have low muscle tone (hypotonia), developmental delays, and difficulty growing (failure to thrive). He also had respiratory failure due in part to compression of his left mainstem bronchus by his aorta, which was corrected with surgery. During his first year of … read more
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 has a 15-year history of progressive muscle weakness and fatigue. At first, she noticed muscle cramping and pain after physical activities. This became more frequent and severe over time. The cramping occurs both in her upper and lower extremities. More recently, the participant began experiencing cramping in her … read more
