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