Jun 18, 2020
The participant was born after a pregnancy complicated by bleeding at 20 weeks and delivered by c-section due to fetal distress at 40 weeks. Her parents became concerned when she was 2 months old because she had low muscle tone. Her head was also leaning to one side (congenital muscular torticollis). She smiled at 2 months, babbled as in infant, and had her first words before 1 year old. At 9 months old, she was found to have delayed gross and fine motor development. She sat unsupported at 20 months and crawled at 3 years old. She first started using a wheelchair around 3 years old.
Before she was 1 year old, the participant was found to have myopathy, which was later confirmed by a muscle biopsy. At 4 years old, she was found to have brain abnormalities (abnormal cerebellum morphology, cerebellar atrophy). She also has tight heel cords and lack of coordinated movement (dysmetria). Her hearing and vision have been evaluated and are normal.
The participant is currently in 3rd grade. She is able to not able to walk independently, but she can walk with a walker and uses a power chair for longer distances. She currently receives physical, occupational and hippo therapy (also called equine-assisted therapy). She can write with a pencil, and she types when she gets fatigued. The participant’s language skills have developed on time, but she has speech articulation difficulties. She is very social and gets along with everyone. She loves painting, math, and school.
Clinicians and researchers are investigating the following genetic change to see if it is causing the participant’s symptoms.
If this participant sounds like you or someone you know, please contact us!
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