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Secrets hidden in the genes: How does Beck muscular dystrophy affect the body's ability to move?
Becker muscular dystrophy (BMD) is a rare genetic disease that primarily affects males and is characterized by progressive muscle weakness, particularly in the legs and pelvic region. The disease is caused by a mutation or deletion of the dystrophin gene located on chromosome X, which is responsible for producing the dystrophin protein that maintains the integrity of the muscle fiber cell membrane. Although Beck muscular dystrophy is related to Duchenne muscular dystrophy (DMD), it has a milder course, and people usually maintain the ability to walk into their 50s or 60s.
"There is currently no cure for Becker muscular dystrophy, but with proper treatment and management, patients can improve their quality of life."
Symptoms and Signs
The main symptoms of Becker muscular dystrophy include:
- Progressive weakening of the leg and pelvic muscles, with a decrease in muscle mass.
- The calf muscles may initially swell between the ages of 5 and 15, but over time these muscles are eventually replaced by fat and connective tissue, resulting in pseudohypertrophy.
- Although muscles in the arms, neck, and other areas may also become weak, they are usually not as pronounced as in the legs.
Complications
As the disease progresses, patients with Becker muscular dystrophy may develop complications such as heart arrhythmia, lung failure, and pneumonia. In addition, psychological disorders are less common in BMD than in DMD, but attention should still be paid to the patient's overall health status.
"Heart problems are an area of particular concern in Becker muscular dystrophy."
Genetics
Beck muscular dystrophy is caused by a mutation in the DMD gene located on chromosome X, and is an X-linked recessive genetic disease. Since women have two X chromosomes, if one is mutated, the second one is usually normal, so women rarely show obvious symptoms. According to this inheritance pattern, women carrying the mutated gene have a 50% chance of passing the gene to their children in each pregnancy. Males cannot pass the genetic mutation to their sons, but all their daughters will be carriers.
Diagnostic Methods
Diagnosis of Becker muscular dystrophy is usually based on history and physical examination, which may note weakness of shoulder and arm muscles and enlargement of the lower legs. Commonly used diagnostic methods include:
- Muscle biopsy: A small piece of muscle tissue is removed and tested for the dystrophin protein.
- Creatine kinase test: Checks the level of creatine kinase in the blood to determine whether muscle cells are damaged.
- Electrodiagnostic testing: This confirms that the underlying cause of muscle weakness is damage to muscle tissue rather than nerve damage.
- Genetic testing: Detects deletion or mutation of the DMD gene.
Treatment options
There is currently no cure for Becker muscular dystrophy, and treatment focuses on controlling symptoms and improving quality of life. Patients are encouraged to participate in physical activity, as prolonged inactivity can accelerate muscle deterioration. Physical therapy and the use of orthotic devices (such as braces and wheelchairs) can help improve mobility. In addition, immunosuppressants such as steroids can slow the progression of the disease.
"Maintaining mobility is critical to the long-term survival of these patients and can even have a significant impact on independence in daily life."
Prognosis
Becker muscular dystrophy progresses at different rates from person to person and generally has a better prognosis than Duchenne muscular dystrophy. In many cases, patients can maintain a relatively independent life for a relatively long time. As technology advances, walkers and other devices that help these patients maintain their quality of life allow them to continue participating in daily activities.
Research for Becker muscular dystrophy continues to advance, and many treatments targeting the underlying cause are still in development. As we explore how to improve the lives of these patients, we should ask: What changes can future technological and medical breakthroughs bring to people with Beck muscular dystrophy?
