Benign scapuloperoneal muscular dystrophy with cardiomyopathy also known as Emery-Dreifuss Muscular Dystrophy Type 2 (EDMD 2) is a genetic condition characterized by joint contractures (limited movement of joints), muscle weakness, and heart issues. These symptoms usually begin early in childhood. The joint contractures restrict the movement of the joints, most often in the elbows, ankles, and neck. Muscle weakness usually occurs in the arms, shoulders, and hips. Problems with the heart (cardiomyopathy) typically begin to occur in adulthood when an individual is over 20 years old. Problems may include palpitations, poor exercise tolerance, and eventual heart failure.
EDMD 2 is a genetic condition caused by changes in the LMNA gene. We inherit our genes in pairs, one from each parent typically. EDMD 2 is inherited in an autosomal dominant manner. Autosomal dominant means an individual only needs one copy of the changed gene or mutation that causes the condition.
EDMD2 can be diagnosed when all three symptoms are present with the addition of genetic testing and muscular imaging performed. There is no way to prevent EDMD2, but there are ways to help symptoms. Treatment varies depending on how severe the symptoms are, but it can involve surgeries of the joints, physical therapy to strengthen muscles, and medication for heart problems.
If you or a family member has been diagnosed with this condition, talk with your doctor about the most current treatment options. Support groups are also good resources of support and information.
Description Last Updated: Aug 29, 2018