At birth, these patients were found to have cleft palate, which required surgery to repair. Shortly after, they were noticed to have very low muscle tone (hypotonia) in the arms and neck. The younger sister has increased muscle tone in her legs and wears braces at night on both ankles … read more
The participant was in excellent health until about three years ago when she started experiencing severe bilateral vocal cord spasms. This came on very suddenly and impacted her ability to breathe. She underwent an emergency tracheostomy and, since this procedure, her breathing has improved greatly. Over the past few years, … read more
At age 5, the participant underwent a procedure to ease the symptoms of her brain abnormality (Arnold-Chiari type I malformation). She was later found to have a fluid-filled cyst in her spinal cord (syrinx), which has caused back pain. She was also noted to have delayed speech and motor development … read more
