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Participant 185


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Male, age 68 with a decrease in blood pressure when moving from sitting to standing (orthostatic hypotension due to autonomic dysfunction), daytime drowsiness (narcolepsy), and cataracts due to changes in the CHRNA3 gene.

Date of Report

Jul 09, 2021

Description

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.

Symptoms / Signs
  • Decrease in blood pressure when moving from sitting to standing (orthostatic hypotension due to autonomic dysfunction)
  • Daytime drowsiness (narcolepsy)
  • Cataract
  • Constriction of the pupil (miosis)
  • Blurred vision
  • Ringing in ears (tinnitus)
  • Vertigo
  • Slow heart rate (bradycardia)
Current Treatments
  • Acarbose, Midodrine – drowsiness
Prior Treatments
Considered treatments
Previously Considered Diagnoses
Other Photographs
Genetic Variants of Interest

Clinicians and researchers have identified the following genetic changes to be causing the participant’s symptoms:

Gene
Inheritance Pattern
Position
Transcript
DNA Change
Protein Change
Autosomal recessive
chr15:g.78894076_ 78894077delAG & chr15:g.78894296C>T
NM_000743.4
c.907_908delCT & c.688G>A
p.Leu303AspfsTer115 & p.Asp230Asn
Contact

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