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Participant 129


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Female, age 17 with global developmental delay, seizures, problems with coordination (ataxia), and involuntary muscle contractions (dystonia)

Date of Report

May 28, 2019

Description

The participant was noticed to have developmental delays early in life. She also began to have seizures around age 6. At age 12, she started to have involuntary muscle contractions (dystonia). She developed difficulty speaking (dysarthria) as well, but this has since improved.

In addition to these symptoms, the participant has seizures and reports feeling extremely overheated before she experiences a seizure. She also has short stature, low muscle tone (generalized hypotonia), sees music in color (synesthesia), and experiences fainting episodes (syncope).

Symptoms / Signs
  • Global developmental delay
  • Seizures
  • Difficulty speaking (dysarthria)
  • Problems with coordination (ataxia)
  • Involuntary muscle contractions (dystonia)
  • Low muscle tone (generalized hypotonia)
  • Short stature
  • Fainting (syncope)
  • Small jaw (micrognathia)
Current Treatments
Prior Treatments
Considered treatments
Previously Considered Diagnoses
  • Ataxia with oculomotor apraxia
  • Metabolic condition
  • Microdeletion/duplication condition
  • POLG –related disorder
Other Photographs
Genetic Variants of Interest
Contact

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