Jul 09, 2021
At a young age, the participant began experiencing chronic constipation and vertigo. His vertigo often included lightheadedness, dizziness, blurred vision and ringing in his ears (tinnitus) when he would move from sitting to standing. He was also found to have small and non-reactive pinpoint pupils. At age 39, the participant’s symptoms worsened and were found to be caused by a decrease in his blood pressure (orthostatic hypotension). He was eventually diagnosed with autonomic dysfunction, meaning that his body was not able to properly regulate itself. Some of his other symptoms include a slow heart rate (bradycardia), daytime drowsiness (narcolepsy), and cataracts.
Clinicians and researchers have identified the following genetic changes to be causing the participant’s symptoms:
If this participant sounds like you or someone you know, please contact us!
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