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Participant 200

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Female, age 40, with severe dysfunction of the autonomic nervous system (dysautonomia), sudden drops in blood pressure (vasovagal syncope), and loss of bladder control (neurogenic bladder).


Date of Report

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.

Additionally, the participant has been diagnosed with episodes of increased heart rate (sinus tachycardia) and a temporary lack of movement in the flow of intestinal contents (ileus).

The participant’s daughter is similarly affected (see Participant 197).


Symptoms / Signs
  • Damage to nerves of the brain and spinal cord (peripheral neuropathy)
  • Abnormal autonomic nervous system physiology (dysautonomia)
  • Difficulty swallowing (dysphagia)
  • Irregular heart rhythm (arrythmia, sinus bradycardia, premature ventricular contraction)
  • Sudden drops in blood pressure (vasovagal syncope)
  • Delayed stomach emptying (gastroparesis)
  • Loss of bladder control (neurogenic bladder)
  • Delayed fine motor development
  • Expressive language delay
  • Receptive language delay
  • Eye conditions (myopia, astigmatism, exotropia)
  • Sensorineural hearing loss
  • Inability to sweat (anhidrosis)
  • Difficulty breathing (dyspnea)
  • Nausea
  • Reduced bone mineral density
  • Foot drop (foot dorsiflexor weakness)
  • Clubfoot (talipes equinovarus)
  • Blood clots (Deep venous thrombosis)
  • Low blood sugar (hypoglycemia)
  • Low blood potassium (hypokalemia)
  • Low blood sodium (hyponatremia)
  • Low energy (asthenia)
Current Treatments
  • Bladder stimulator
  • Botox injections
  • Flecainide
  • IV fluids
  • Methenamine hippurate (for chronic UTIs)
  • Midodrine (hypotension)
  • Northera
  • Propranolol (for sinus tachycardia)
  • Prucalopride
Prior Treatments
  • Fludrocortisone
Considered treatments
Previously Considered Diagnoses
  • Shy-Drager syndrome
Other Photographs
Genetic Variants of Interest

Clinicians and researchers are investigating the following genetic changes to see if they are causing the participant’s symptoms:

Inheritance Pattern
Position (hg19)
DNA Change
Protein Change
see gene page
see gene page
see gene page
see gene page
see gene page
Autosomal dominant

If this participant sounds like you or someone you know, please contact us!


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