Why is muscular dystrophy important

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.

Treatment may include:. Darras BT. Duchenne and Becker muscular dystrophy: Clinical features and diagnosis. Birnkrant DJ, et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: Diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management.

The Lancet Neurology. Limb-girdle muscular dystrophy. Duchenne muscular dystrophy DMD. Muscular Dystrophy Association. Bonow RO, et al. Neurological disorders and cardiovascular disease. Saunders Elsevier; News from Mayo Clinic Mother and son share rare muscle disorder, treated decades apart by same doctor May 06, , p. Because the specific gene involved in muscular dystrophy has been found, a replacement gene that could create the missing dystrophin protein is a sensible consideration.

There are complicated problems with this approach, including the potential of the immune system to repel a new protein and the large size of the dystrophin gene needing to be replaced. There are also difficulties in targeting viral vectors directly to the skeletal muscle. Another approach targets utrophin production. Utrophin is a protein similar to dystrophin that is not affected by muscular dystrophy.

If utrophin production could be upregulated, the disease might be halted or slowed. If the dystrophin gene is being read by protein synthesis machinery and it reaches a mutation, it stops and does not complete the protein. Drugs are being trialed that cause the protein-making equipment to skip the mutated content and still continue to create dystrophin.

Rather than target the genes behind muscular dystrophy, some researchers are attempting to slow the inevitable muscle wasting. Muscles, in standard circumstances, can repair themselves. Research into controlling or increasing these repairs could show some benefits for people with muscular dystrophy.

Researchers are looking at the possibility of inserting muscle stem cells capable of producing the lacking dystrophin protein. Current projects are looking at the most useful type of cells to use and ways in which they could be delivered to skeletal muscle.

During the early stages of muscular dystrophy, myoblasts also called satellite cells repair and replace faulty muscle fibers. As the myoblasts become exhausted, the muscles are slowly turned into connective tissue. Some studies have attempted to insert modified myoblast cells into muscles to take over from the exhausted natural myoblasts.

Spinal muscular atrophy SMA is a collection of inherited neuromuscular diseases. The affected child might have difficulty jumping, running, and walking.

Other symptoms include enlargement of the calves, a waddling gait, and lumbar lordosis an inward curve of the spine. Later on, the heart and respiratory muscles are affected as well.

Progressive weakness and scoliosis result in impaired pulmonary function, which can eventually cause acute respiratory failure. DMD was first described by the French neurologist Guillaume Benjamin Amand Duchenne in the s, but until the s, little was known about the cause of any kind of muscular dystrophy. In , the protein associated with this gene was identified and named dystrophin.

Lack of the dystrophin protein in muscle cells causes them to be fragile and easily damaged. DMD has an X-linked recessive inheritance pattern and is passed on by the mother, who is referred to as a carrier. DMD carriers are females who have a normal dystrophin gene on one X chromosome and an abnormal dystrophin gene on the other X chromosome. Most carriers of DMD do not themselves have signs and symptoms of the disease, but a minority do.

Symptoms can range from mild skeletal muscle weakness or cardiac involvement to severe weakness or cardiac effects and can begin in childhood or adulthood.