Wilkins syndrome

Wilkins syndrome, also known as X-linked striated muscle myopathy, is a rare genetic disorder affecting muscles, especially those involved in movement and breathing. It is caused by mutations in the MYH3 gene, which helps build muscle fibers. People with this condition often experience muscle weakness, stiffness, and difficulties with mobility. Symptoms can vary in severity and may include joint contractures—the stiffening of joints—leading to limited movement, as well as potential breathing challenges. Since it’s genetic, it is inherited from a parent and diagnosis typically involves genetic testing and clinical evaluation.