X-linked Emery-Dreifuss muscular dystrophy (EDMD) is a rare genetic disorder that affects the muscles and heart. It is caused by a mutation in the gene that codes for the protein emerin, which is found in the inner membrane of muscle cells. Symptoms of EDMD include muscle weakness, joint contractures, and cardiac conduction defects. The disorder is inherited in an X-linked recessive pattern, meaning that it is passed from mother to son.

The symptoms of X-linked Emery-Dreifuss muscular dystrophy typically appear in childhood and include:

-Muscle Weakness and Stiffness in the arms, legs, and neck
-Contractures of the elbows, Achilles tendons, and other joints
-Cardiac conduction defects, including heart block
-Muscle wasting
-Difficulty walking
-Difficulty climbing stairs
-Difficulty rising from a seated position
-Difficulty with fine motor skills
-Muscle cramps
-Fatigue

X-linked Emery-Dreifuss muscular dystrophy is caused by mutations in the EMD gene, which is located on the X chromosome. This gene provides instructions for making a protein called emerin, which is found in the inner membrane of muscle cells. Mutations in the EMD gene lead to the production of an abnormal emerin protein or no emerin protein at all. This disrupts the structure and function of the muscle cells, leading to the signs and symptoms of X-linked Emery-Dreifuss muscular dystrophy.

There is no cure for X-linked Emery-Dreifuss muscular dystrophy. However, medications such as corticosteroids, ACE inhibitors, and angiotensin-converting enzyme (ACE) inhibitors may be used to help manage symptoms. Physical therapy and exercise can also help to improve muscle strength and function.