Emery–Dreifuss muscular dystrophy 2

Emery–Dreifuss muscular dystrophy 2 (EDMD2) is a type of muscular dystrophy that primarily affects the skeletal muscles and the heart. It is one of the forms of Emery-Dreifuss muscular dystrophy (EDMD), a group of hereditary muscle disorders that weaken the musculoskeletal system and cause joint deformities, known as contractures.

Symptoms

The symptoms of EDMD2 typically begin in early childhood and progress slowly. They include muscle weakness and wasting, joint contractures, and heart problems. The muscle weakness usually starts in the shoulders and upper arms, and later affects the lower limbs. The contractures limit the mobility of the affected joints, particularly the elbows, neck, and ankles. The heart problems can lead to life-threatening complications such as cardiomyopathy and arrhythmia.

Causes

EDMD2 is caused by mutations in the LMNA gene, which provides instructions for making a protein that is an important component of the nuclear envelope. The nuclear envelope is a structure that surrounds the nucleus in cells and helps regulate the activity of certain genes. Mutations in the LMNA gene disrupt the normal function of the nuclear envelope, leading to the muscle and heart problems seen in EDMD2.

Diagnosis

The diagnosis of EDMD2 is based on the clinical symptoms, family history, and genetic testing. The genetic testing can confirm the presence of a mutation in the LMNA gene. Other tests, such as electromyography, muscle biopsy, and heart tests, may also be used to support the diagnosis.

Treatment

There is currently no cure for EDMD2. The treatment is aimed at managing the symptoms and preventing complications. This may include physical therapy to improve mobility and reduce contractures, medications to manage heart problems, and in some cases, surgery to treat severe contractures or heart problems.

See also

• Emery-Dreifuss muscular dystrophy
• Muscular dystrophy
• LMNA
• Contracture
• Cardiomyopathy
• Arrhythmia