Which inheritance pattern is most associated with Emery-Dreifuss Muscular Dystrophy?

Emery-Dreifuss Muscular Dystrophy (EDMD) is primarily associated with an X-linked recessive inheritance pattern. This means that the condition is caused by mutations in genes located on the X chromosome, and it predominantly affects males, who have only one X chromosome. As a result, if a male inherits the mutated gene, he is more likely to express the disorder. Females, who have two X chromosomes, can be carriers of the condition if they have one mutated gene, but they may not display symptoms due to the presence of a normal gene on their other X chromosome.

In the case of EDMD, it is particularly linked to mutations in the EMD gene which encodes a protein called emerin, critical for muscle function and structural stability. The manifestation of the disease typically begins in childhood or adolescence and includes muscle weakness and contractures, primarily affecting the shoulder and hip girdle muscles.

Understanding this inheritance pattern is essential in genetic counseling, as it helps in predicting the risk of passing the condition to offspring and informs carrier testing strategies for family members.