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EDMD effects the skeletal muscles. There is a missing protein in the genetic code, named Emerin. Emerin exists in the nucleus of the muscle cell. It is unknown why this effects the muscle growth in EDMD patients.
Skeletal muscles are formed as your body develops. Emerin produces an essential protective coating for the skeletal muscles. For people with EDMD, the lack of Emerin prevents this protective layer from healing or repairing itself when damaged or worn away with use or exercise. As a result, the underlying muscles are exposed and and become susceptible to damage that results in muscle wasting.
Skeletal muscles will gradually become weaker. The speed or progression of this varies from person to person. An EDMD child can perform normal activities but once the disease begins to manifest and progress that same child could have a hard time walking, throwing a ball, lifting objects or even his or her own body weight.
Only a certain subset of the patients with EDMD have what is called a nonsense mutation. This mutation occurs on the genetic level and is the reason for the disease in these patients. This is also referred to as a Stop Codon Mutation. The diagram below provides a visual of how the mutation begins.
What happens in a non effected person is that the protein, in this case Emerin, will become a fully developed protein and will then perform it’s job in our body. But in an effected person, or a person with EDMD, the Emerin Proteins’ development cycle is blocked or terminated early and the protein will only develop so far. This underdeveloped protein then cannot fully perform its job in our bodies.
What this means
The gene that is effected is called EMD. This gene provides instructions for creating Emerin. In an EDMD patient our EMD gene produces non-functional Emerin which researchers know is essential to the function of skeletal and cardiac muscle function.
What researchers don’t yet know is how non-developed Emerin translates into the symptoms seen in EDMD patients.