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The mysterious cause of Baker's muscular dystrophy: Why does the disease only occur in men?
Becker Muscular Dystrophy (BMD) is a hereditary disease that mainly affects muscles, causing the patient's legs and pelvic muscles to gradually weaken. Similar to Duchenne Muscular Dystrophy (DMD), BMD is caused by genetic mutations related to dystrophin, a protein related to large muscles. However, the course of BMD is usually slow, often allowing patients to maintain walking ability into their 50s and 60s with early detection. Although there is currently no cure for the disease, patients can find relief through physical therapy, bracing, and corrective surgery.
Baker muscular dystrophy is caused by mutations in the antimuscle protein gene, which is an X-chromosome trait in men, so BMD is more common in men.
Symptoms and complications
Symptoms in people with Baker muscular dystrophy include progressive leg and pelvic muscle weakness, accompanied by a loss of muscle mass (muscle atrophy). The peroneal muscles usually swell between the ages of 5 and 15, but are then replaced by fat and connective tissue, resulting in pseudohypertrophy. In addition, complications such as cardiac arrhythmias, pulmonary failure, and pneumonia may occur.
Psychological disorders are less common in patients with BMD than in Duchenne muscular dystrophy (DMD), but they still need to be noted.
Genetics and Diagnosis
BMD is an X-linked recessive inheritance, which means that usually only males will show symptoms. Women have two X chromosomes. If there is a problem with one X chromosome, the other one may still be able to provide normal functions, so symptoms are rare. For the patient's siblings, the mother's carrier status affects the risk, with a carrier woman having a 50% chance of passing on the DMD mutation in each pregnancy, with her son being affected.
Diagnosing BMD usually requires tests such as muscle biopsy, creatine kinase testing, and genetic testing to confirm the anti-muscle protein deficiency.
Treatment and Prognosis
Although there is currently no cure for Becker muscular dystrophy, the goal of treatment is to control symptoms to improve the patient's quality of life. Encouraging activity is crucial, as long-term inactivity can aggravate muscle conditions. Physical therapy can help maintain muscle strength, while assistive devices such as braces and wheelchairs can improve a patient's mobility and autonomy. In some cases, patients may need a pacemaker or other personalized treatments.
Researchers currently have a variety of drugs in trials aimed at intervening at the root cause of the disease, including gene therapies and antimicrobial drugs.
Future research directions
Currently, research is ongoing for all types of muscular dystrophy. As scientific research advances, there may be many new treatments for Becker muscular dystrophy in the future. However, the progression of the disease varies depending on the patient's specific circumstances. Therefore, ongoing education and genetic counseling are very important for carriers and patients planning a pregnancy.
So, how can we improve awareness of this rare disease so that early detection and intervention can improve the quality of life of patients?
