X-linked scapuloperoneal muscular dystrophy

X-linked scapuloperoneal muscular dystrophy is a skeletal muscle condition that usually begins later in life. People with this condition experience weakness in specific muscles, particularly those around the shoulder blades (scapular muscles) and the lower legs (peroneal muscles). A key feature of the disorder is scapular winging, where the shoulder blade sticks out abnormally.

Common signs of this condition include muscle weakness in the shoulders and lower legs, which can lead to difficulties with movement and balance. Scapular winging is a distinctive feature that is often observed.

This condition is linked to changes in the FHL1 gene. The gene is known to play a role in muscle function, and variations in it can lead to the symptoms seen in X-linked scapuloperoneal muscular dystrophy. The term X-linked in the name indicates that the condition is associated with genes on the X chromosome.

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.