SELENON-related myopathy

SELENON-related myopathy is a rare condition that affects the muscles. It is usually seen at birth or early in childhood. The condition is caused by changes in the SELENON gene, which leads to muscle weakness and delays in reaching motor milestones. People with this condition may experience issues with muscle strength and control. Over time, some may develop problems with spinal shape and breathing due to weakness in the muscles, which can increase the challenges of daily activities.

Common symptoms include low muscle tone at birth (neonatal hypotonia), delayed motor development, and weakness in the central muscles of the body (axial muscle weakness). People with this condition often develop scoliosis (a sideways curvature of the spine) and may experience significant problems with breathing. Spinal rigidity is another feature that can vary in severity among those affected.

SELENON-related myopathy is caused by changes in the SELENON gene. These genetic variants lead to a form of myopathy that starts early in life and affects muscle development and function.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.