X-linked myopathy with postural muscle atrophy

X-linked myopathy with postural muscle atrophy is a rare and progressive muscle disease. It mainly affects adults and is characterized by weakness in the shoulder and leg muscles. People with this condition may experience wasting of muscles in the shoulder area (scapular winging) and weakening of core postural muscles. Additionally, there can be a mix of muscle thinning and an unusual increase in muscle size in some areas. Over time, additional features such as neck rigidity, a stiff spine, and shortening of the Achilles tendon may occur. In later stages, breathing difficulties can develop. Together, these signs help define the clinical picture of this condition.

Common symptoms include muscle weakness and wasting in the shoulder region, a winged appearance of the scapula, and reduced strength in the muscles that help maintain posture. Other signs include neck stiffness, a rigid spine, shortening of the Achilles tendon, and in later stages, respiratory difficulties.

This condition is linked to changes in the FHL1 gene and follows an X-linked pattern of inheritance. This means that the gene on the X chromosome is affected, which can influence how the condition appears in different people.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition. As a progressive disorder, the condition may lead to increasing difficulties over time.

Information about research is currently limited for this condition.