May 09, 2022
The participant began experiencing symptoms early in life with constipation and difficulty emptying her bladder (urinary retention). These symptoms progressed into stomach problems with nausea and feeling full very quickly (gastroparesis). She underwent significant weight loss at this time. Around age 29, she had her first episode of dizziness and fainting (vasovagal syncope). Since then, she has had many episodes of fainting that are sometimes preceded by dizziness and lightheadedness.
She has been evaluated by numerous specialists over the course of her life and was clinically diagnosed with multi-system degeneration of the autonomic nervous system (Shy-Drager syndrome). This diagnosis does not explain all her symptoms. She currently experiences weakness and pain in her right foot and left hand resulting from damage to the nerves of the brain and spinal cord (peripheral neuropathy), loss of bladder control (neurogenic bladder), difficulty breathing (dyspnea) that requires oxygen for support, difficulty sweating (anhidrosis) and heart problems (cardiac arrhythmia). She continues to experience fainting episodes.
The participant’s daughter is similarly affected (see Participant 197).
Clinicians and researchers are investigating the following genetic change to see if it is causing the participant’s symptoms:
If this participant sounds like you or someone you know, please contact us!
The information provided here is based on individual patient experiences. This information is not meant to substitute for advice of a qualified health care provider. Please do not use this information to diagnose or develop a treatment plan for a health problem or disease without consulting a qualified health care provider.
Any mention of products or services is not meant as a recommendation of the products or services. Please discuss any options with a qualified health care provider.
Developments in medical research may impact the information that appears here. No assurance can be given that the information in this site will include the most recent findings or developments.
The use of any information provided on this site is solely at your own risk.