Feb 18, 2020
The participant noticed that he was weaker than his peers in childhood. At age 23, he noticed difficulty getting up from a squatting position and climbing stairs, and began experiencing progressive muscle weakness involving muscles in his arms, legs, face, and eyes. He also developed heart muscle disease (dilated cardiomyopathy) and reduced lung volume (restrictive lung disease). He underwent a muscle biopsy that showed muscle cell death (skeletal muscle necrosis) and wasting (dystrophic changes) and the presence of rare abnormal vacuoles (rimmed vacuoles). His doctors also noted that he has abnormal scarring (atrophic scarring) and stiff elbow joints (elbow flexion contracture).
Clinicians and researchers have 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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