Jun 21, 2019
The participant was healthy and developing normally until age 3. At this time, his parents noticed that he was walking with a waddling gait. Since then, the participant has had difficulty climbing stairs, running, and getting up from a squatted position (Gowers sign). He also has an irregular heartbeat (arrhythmia) and experiences difficulty breathing (moderate restrictive ventilatory defect).
Some of his other symptoms include low muscle tone (muscular hypotonia), muscle weakness (proximal muscles), sideways curve of the spine (scoliosis), poor appetite, and elevated levels of creatine phosphokinase in the blood (elevated serum creatine phosphokinase).
Clinicians and researchers have identified the following genetic change to be causing the participant’s symptoms:
If this participant sounds like you or someone you know, please contact us!
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