Nov 28, 2018
At age 2, the participant started to have frequent falls and difficulty getting up from the ground after falling. Her parents started to notice that her muscles would tighten and that she would walk with an abnormal gait (toe-walking). Although the participant said her first word at age 2, she did not speak in full sentences until age 3. Currently she can count to 15, read some words, and write her letters. In terms of her motor development, she can walk with support and utilizes a wheelchair when moving longer distances. Some of her other symptoms include curvature of the spine (scoliosis) and generalized bone demineralization.
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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