Study Finds that an Abnormality in RNA May Lead to Congenital Myotonic Dystrophy
Muscular Dystrophy (MD) is a group of genetic disorders that cause the muscles of the body to weaken and fail over time. There are different types of MD, all characterized by gene mutations. Each type affect patients differently and in different areas of the body as well as at different ages but it is usually diagnosed in childhood.
This is a disease that typically runs in families, though not everyone is the family may be afflicted with the disease. Everyone in the family is usually a carrier of the gene. When they come in contact with someone else that also has the gene, there’s a fifty percent chance that any offspring of the union will have MD. In the rarest cases it’s possible for spontaneous development of MD when neither or the parents carry the gene, but the offspring has a spontaneous mutation in their own genes.
In muscular dystrophy the genes that contain the information that the cells need to make a protein which controls the functions of the muscles have a problem where they’re unable to either create the protein, not make enough of the protein or make mutated unusable forms of the protein. For instance those with Becker and Duchenne muscular dystrophy don’t make enough of the protein dystrophin, which allows muscles to be strong and protects them from injury.
It’s a progressive disease and has no cure, and the outcome for most is generally the same. Most that are diagnosed with MD will end up in a wheelchair at some point in their lives. This isn’t a death sentence however, with the right therapies, support and some adaptations to cater to the needs of the disease, many are able to do. Under the umbrella term of MD there are nine forms of the disease that present differently, affect different parts of the body and have different times of onset.