ACTN2-related cardiac and skeletal myopathy

ACTN2-related cardiac and skeletal myopathy is a condition caused by changes in the ACTN2 gene. This gene change affects both the heart muscle and the muscles used for movement. Many people with this condition experience heart problems such as dilated cardiomyopathy, hypertrophic cardiomyopathy, restrictive cardiomyopathy, arrhythmias, and issues like left ventricular non-compaction. In addition to the heart issues, there are also problems with the skeletal muscles. Symptoms can include progressive muscle weakness, issues with walking, muscle wasting, and high levels of creatine kinase detected in blood tests. The condition may lead to difficulties in daily activities due to these muscle problems.

Common features include heart problems such as dilated, hypertrophic, or restrictive cardiomyopathy, as well as arrhythmias and left ventricular non-compaction. People with this condition may also experience muscle weakness, gait disturbances, muscle atrophy, and elevated creatine kinase levels, which shows muscle damage.

The condition is caused by a change in the ACTN2 gene. This genetic variation affects the development and function of both heart and skeletal muscles.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.