Becker Muscular Dystrophy (BMD)

Becker muscular dystrophy is an inherited single gene disorder characterized by muscle weakness (wasting), primarily affecting skeletal and heart muscles.

Becker Muscular Dystrophy Facts

What Causes Becker Muscular Dystrophy?

The underlying cause of the disease is a mutation in the gene responsible for encoding the dystrophin protein on the X chromosome. A gene is a small section of DNA on a chromosome. It is estimated that humans have more than 20,000 genes.

Dystrophin (DMD) encodes a protein that is found in the skeletal muscles and helps maintain the right shape of the muscle cells (i.e., this gene is mainly expressed in skeletal, cardiac muscles, and specific brain regions). Structural rearrangements in the dystrophin gene do not result in a complete termination of dystrophin synthesis, as in Duchenne muscular dystrophy. This explains the fact that Becker muscular dystrophy has a more mild presentation in comparison with Duchenne MD.

Females are not usually affected by the symptoms of DMD because they inherit two copies of the X chromosome (one from each parent). The normal copy of the X chromosome can usually compensate for the one that has a dystrophin gene mutation. Female carriers usually have no symptoms of BMD. A DMD carrier woman has a 50 percent chance of having a son affected by DMD.
Males get BMD because they receive only one X chromosome from their mother. So if it is mutated, they will not have an extra copy of the X chromosome to compensate for the mutation.

Symptoms of Becker Muscular Dystrophy

The consequences of Becker muscular dystrophy develop slowly, and symptoms usually start when kids are between 5 and 15 years old. In most cases, children get diagnosed with the condition after age 7. Another characteristic feature of the disease is the nature of symptoms. Some patients experience common symptoms, while others develop different signs.

Diagnosis of Becker Muscular Dystrophy

Becker Muscular Dystrophy Treatment

Becker Muscular Dystrophy is a serious inherited disorder that has no cure at present. Proper treatment can help reduce complications and improve the quality of life in patients with BMD. Current clinical research and treatments for Becker muscular dystrophy are aimed at finding new ways to slow and prevent muscle degeneration associated with the disease.

Clinical Trials for the Treatment of Becker Muscular Dystrophy

Investigators are actively pursuing several approaches to halt or reverse the muscle damage caused by Becker muscular dystrophy (BMD).

Some of the front-running strategies include: inserting new dystrophin genes; changing the way cells interpret genetic instructions for creating dystrophin; changing the mutated dystrophin gene itself; manipulating other proteins in the body to compensate for the lack of dystrophin; increasing blood flow to muscles; and using stem cells to repair damaged muscles. Some studies are focused specifically on the dystrophin-deficient heart.

To learn more about Becker's Muscular Dystrophy treatments, visit the MDA website.

Recommended Resources

Muscular Dystrophy Association

National Institute of Neurological Disorders

TREAT-NMD

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