Becker muscular dystrophy

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Becker muscular dystrophy (pronunciation: BEK-er MUSS-kyoo-lur dis-TROH-fee) is a genetic disorder characterized by progressive muscle weakness and wasting. It is one of nine types of muscular dystrophy, a group of genetic, degenerative diseases primarily affecting voluntary muscles.

Etymology

The condition is named after German doctor Peter Emil Becker, who first described this variant of muscular dystrophy in the 1950s.

Causes

Becker muscular dystrophy is caused by mutations in the Dystrophin gene. This gene is responsible for the production of a protein needed to keep muscle cells intact. In Becker muscular dystrophy, the gene does not produce enough dystrophin, or the dystrophin produced is not functional.

Symptoms

The onset of symptoms typically occurs in late childhood or adolescence. Symptoms may include difficulty walking, muscle weakness, fatigue, and cardiomyopathy (heart disease).

Diagnosis

Diagnosis of Becker muscular dystrophy can be confirmed through genetic testing, which can identify mutations in the dystrophin gene. Other tests may include a muscle biopsy, blood enzyme tests, and electromyography (EMG).

Treatment

There is currently no cure for Becker muscular dystrophy. Treatment is focused on managing symptoms and improving quality of life. This may include physical therapy, occupational therapy, and medications to manage symptoms.

Prognosis

The progression of Becker muscular dystrophy varies. Some individuals may remain able to walk into their 40s, while others may lose this ability in their teens. Life expectancy is usually normal or near normal, but heart disease can lead to premature death.

See also

External links

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