Becker disease

Becker Disease is a genetic disorder that primarily affects the skeletal muscles. It is a type of muscular dystrophy, specifically Becker Muscular Dystrophy (BMD), named after the German doctor Peter Emil Becker who first described this variant of the disease in the 1950s.

Overview

Becker Disease is characterized by progressive muscle weakness of the legs and pelvis. It is a milder variant of Duchenne muscular dystrophy and is caused by mutations in the same gene, the dystrophin gene. However, in Becker Disease, the gene mutation allows for some production of the dystrophin protein, leading to a less severe presentation of symptoms.

Symptoms

The symptoms of Becker Disease typically appear in adolescence or early adulthood. The most common symptoms include difficulty walking, muscle weakness, muscle cramps, and fatigue. As the disease progresses, affected individuals may require the use of a wheelchair. Other symptoms can include cardiomyopathy, a condition that weakens and enlarges the heart, and breathing difficulties.

Diagnosis

Diagnosis of Becker Disease involves a combination of clinical examination, family history, and genetic testing. The genetic test involves analyzing a blood sample for mutations in the dystrophin gene. Other tests, such as a muscle biopsy or an electromyography (EMG), may also be used to confirm the diagnosis.

Treatment

There is currently no cure for Becker Disease. Treatment is focused on managing symptoms and improving quality of life. This can involve physical therapy, occupational therapy, and the use of assistive devices. Medications may also be used to manage symptoms such as muscle stiffness and heart problems.

Research

Research into Becker Disease is ongoing, with scientists exploring various avenues for potential treatments. This includes gene therapy, stem cell therapy, and drugs that can increase the production of the dystrophin protein.

See Also

• Duchenne muscular dystrophy
• Genetic disorders
• Muscular dystrophy

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