background participants

Participant 050

On this page, you will find information about a UDN participant.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here. While these participant pages are helpful to understand our participants’ stories, they do not begin to describe their diagnostic odysseys. A special thank you goes out to our participants and their families for sharing their experiences.


Male, age 11 with damage to the nerve that connects the eye to the brain (optic atrophy), drooping eyelids (congenital, bilateral, progressive ptosis), uncontrolled muscle movements (ataxia), and progressive fatigue

Date of Report

Feb 01, 2018


When the participant was an infant, he was found to have drooping eyelids (congenital, bilateral ptosis) and damage to the nerve that connects the eye to the brain (optic atrophy). Both of these have worsened over time. He was also delayed in meeting his milestones (global developmental delay) and did not walk until the age of 2. He had difficulty speaking (dysarthria), but he is now able to be understood and has mild dysarthria. He also has difficulty controlling his muscle movements (ataxia) and low muscle tone (muscular hypotonia), but this is not visible in everyday activities. He becomes tired more quickly than he used to (progressive fatigue).  He is currently 1-2 years behind academically, but is improving in his speech and walking with physical and occupational therapy.

His older sister, who is 15-years-old, was born early and is more moderately affected than her brother. She also is farsighted (myopia), was born with a hole in the heart (atrial septal defect), and has sleep apnea and eczema.

Symptoms / Signs
  • Low muscle tone (muscular hypotonia)
  • Difficulty controlling muscle movements (ataxia)
  • Motor delay
  • Fatigue
  • Global developmental delay
  • Eczema
  • Damage to the nerve that connects the eye to the brain (optic atrophy)
  • Drooping eyelids (congenital, bilateral, progressive ptosis)
  • Difficulty speaking (dysarthria)
Current Treatments
Prior Treatments
Considered treatments
Previously Considered Diagnoses
  • Angelman syndrome
  • Fragile X syndrome
  • Metabolic condition
  • Mitochondrial condition, including progressive external ophthalmoplegia
  • Myotonic dystrophy
  • Oculopharyngeal myotonic dystrophy
  • Prader-Willi Syndrome
  • Spinocerebellar ataxia
  • Older sister- Myasthenia gravis
Other Photographs
Genetic Variants of Interest

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.