Description

The patient was born at 41.5 weeks and immediately had breathing difficulties. She was in the neonatal intensive care unit (NICU) for 5 months and required mechanical ventilation, a tracheostomy, Nissen fundoplication, and a gastrostomy tube (g-tube). The tracheostomy and g-tube were removed at age 4 and 5 years, respectively.

The patient was born with a high-arched palate and submucosal cleft, split (bifid) uvula, and low muscle tone (hypotonia).

The patient’s symptoms were fairly stable until adolescence when she was diagnosed with a sideways curvature of her spine (scoliosis) and restrictive lung disease. Since then, the weakness in her legs has gotten worse. She currently uses a walker and scooter to get around. She has increased weakness in her arms and has been falling more frequently.