Aug 25, 2021
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, she has also developed muscle weakness and has difficulty holding her head up. She can no longer walk long distances and has trouble getting off the ground. She has muscle twitching (fasciculations) and double vision (diplopia) as well. Recently she had an abnormal autonomic function test, which showed evidence of decreased sudomotor responses at all sites.
As a child, the participant was diagnosed with heart defects (ventricular septal defect, pulmonic stenosis), which resolved spontaneously. These heart defects are likely caused by a variant in the JAG1 gene.
In 2021, clinicians and researchers identified the following genetic change to be causing the participant’s symptoms:
If this participant sounds like you or someone you know, please contact us!
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