Muscular dystrophy is the group of muscular disease which are characterized by the progressive weakness and loss of muscle mass. This is the common problem of all the age group people. There are different types of muscular dystrophy and most common symptoms can be seen in the boys during childhood. In muscular dystrophy abnormal genes hinder the production of proteins which are needed in the formation of healthy muscles.
Causes of Muscular Dystrophy
Muscular dystrophy is caused by mutations on the X chromosome. Each version of muscular dystrophy is due to a different set of mutations, but all prevent the body from producing dystrophin. Dystrophin is a protein essential for building and repairing muscles.
Duchenne muscular dystrophy is caused by specific mutations in the gene that encodes the cytoskeletal protein dystrophin. Dystrophin makes up just 0.002 percent of the total proteins in striated muscle, but it is an essential molecule for the general functioning of muscles.
Dystrophin is part of an incredibly complex group of proteins that allow muscles to work correctly. The protein helps anchor various components within muscle cells together and links them all to the sarcolemma – the outer membrane.
If dystrophin is absent or deformed, this process does not work correctly, and disruptions occur in the outer membrane. This weakens the muscles and can also actively damage the muscle cells themselves.
In Muscular Dystrophy, dystrophin is almost totally absent; the less dystrophin that is produced, the worse the symptoms and etiology of the disease. In Becker muscular dystrophy, there is a reduction in the amount or size of the dystrophin protein.
Symptoms of Muscular Dystrophy
- Difficulty in running and jumping
- Learning disabilities
- Problems in getting up from a lying and sitting position
- Walking on toes
- Quick falls
- Pain in muscles