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Participant 050


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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

Description

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
Contact

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