Apr 10, 2017
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.
If this participant sounds like you or someone you know, please contact us
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