Aug 25, 2021
The participant met her initial developmental milestones on time. She sat up at 6 months, walked at 18 months, and started talking at 24 months. However, around 18-24 months, her parents noticed that she was clumsy and seemed to have problems with her balance. These balance problems did not improve even with occupational and physical therapy. She currently has difficulty walking (gait ataxia and imbalance) but does not require assistive devices.
At age 3, the participant developed a tremor in her arms. She now tremors in her arms and legs when standing and trembles more severely when she is upset or tired.
The participant has difficulty in math and reading and tends to speak at a younger developmental age level. She is currently in 8th grade but functions at a 5th/6th grade level and has an individualized education program (IEP). She has had a stable academic performance with no known regression. Recently she has developed a fear of circles and has days where she acts younger than her age. She had a brain MRI three years ago that showed abnormal findings (cerebellar atrophy).
In 2021, clinicians and researchers identified the following genetic changes to be causing the participant’s symptoms:
If this participant sounds like you or someone you know, please contact us!
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