Emery-Dreifuss muscular dystrophy (EDMD) is a rare genetic condition that primarily affects the skeletal and cardiac muscles. Skeletal muscles are responsible for joint movement, and cardiac muscles are required for the proper functioning of the heart.
There is currently no specific treatment for EDMD. Therapies focus on alleviating symptoms such as joint deformities (contractures) and heart problems that are common in patients.
Physical therapy
Contractures are common in EDMD patients and can appear in early childhood. Stretching and range-of-motion exercises, in consultation with a trained physiotherapist, can help slow the development of joint stiffness and deformity. Active and passive exercises may also help build and maintain muscle strength to prevent the worsening of contractures.
Occupational therapy
A trained occupational therapist can help patients to adapt their activities to compensate for the loss of muscle strength and to remain independent while performing daily activities.
They may recommend and train patients in the use of assistive devices such as ankle and foot braces to prevent leg deformities, wheelchairs to help with mobility, home modifications such as shower handles, toilet bars, and dressing aids, and communication devices to facilitate interpersonal interaction.
Cardiac care
Nearly all EDMD patients have some level of heart complication by age 30. Cardiac conduction block is the most common problem in which there is poor communication between the upper and lower chambers of the heart, disrupting the heart rhythm. This can occur suddenly and can be life-threatening. Therefore, EDMD patients should be monitored regularly for signs of heart block, which can be easily detected on an electrocardiogram.
Insertion of a pacemaker may be required to treat the heart block. A pacemaker is a small device placed under the skin that uses electrical impluses to help the heart beat normally.
In EDMD, the heart muscles can also weaken, causing cardiomyopathy, a condition in which the heart is unable to pump blood properly. Medications such as angiotensin-converting enzyme inhibitors, diuretics, and blood thinners can help improve the functioning of the heart.
Severe cases of cardiac issues may require heart transplants.
Orthopedic surgery
In some cases, orthopedic surgery may be required to correct contractures but is usually not performed because of the high rate of contracture reoccurrence.
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Muscular Dystrophy News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare providers with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.
