A family history of muscular dystrophy will increase the chance of it affecting an individual. There is currently no cure, but certain physical and medical treatments can improve symptoms and slow the progression. Muscular dystrophy is a group of over 30 conditions that lead to muscle weakness and degeneration. As the condition progresses, it becomes harder to move. In some cases, it can affect breathing and heart function, leading to life-threatening complications.
Depending on the type and severity, the effects can be mild, progressing slowly over a normal lifespan, there may be moderate disability, or it can be fatal.
The symptoms of Becker muscular dystrophy are similar but tend start in the mid-twenties or later, are milder, and progress more slowly. Currently, there is no cure for muscular dystrophy.
Medications and various therapies help slow the progression of the disease and keep the patient mobile for the longest possible time. 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. 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 Duchenne 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. The gene coding for dystrophin is the largest known gene in humans.
More than 1, mutations in this gene have been identified in Duchenne and Becker muscular dystrophy. Duchenne muscular dystrophy can lead to life-threatening complications, such as breathing difficulties and heart problems. This means that they get worse over time. Kids with muscular dystrophy may also develop scoliosis curved spine , heart problems, breathing problems, and trouble walking.
Muscular dystrophy is a genetic condition. Genetic conditions are passed from a parent or parents to their child.
In muscular dystrophy, a gene change prevents the body from making the proteins needed to build and maintain healthy muscles. A genetic counselor can help parents understand how muscular dystrophy can run in families. But treatments can help people stay as active and independent as possible. Clinical trials are ongoing and new medicines are being developed to treat and possibly cure muscular dystrophy. Treatment for muscular dystrophy depends on how old the child is, what kind of muscular dystrophy they have, and how severe it is.
Over time, this causes increasing disability. The mutations are often inherited from a person's parents. If you have a family history of MD, your GP may refer you for genetic testing and counselling to evaluate your risk of developing the condition or having a child with MD and to discuss the options available to you. Read more about the causes of MD and genetic testing for MD.
There are many different types of MD, each with somewhat different symptoms. Not all types cause severe disability and many don't affect life expectancy. Read more about the types of MD and diagnosing MD. Duchenne MD is the most common type of MD.
In the UK, about boys are born with Duchenne MD each year, and there are about 2, people living with the condition in the UK at any one time. Myotonic MD is the second most common type of MD, affecting around 1 person in every 8, Facioscapulohumeral MD is thought to affect around 1 in every 20, people in the UK, making it the third most common MD.
Many different methods can be used to diagnose the various types of MD. The age at which the condition is diagnosed will vary depending on when symptoms first start to appear. See a GP if you or your child has any symptoms of MD.
0コメント