Beckerféle

Beckerféle refers to a family of inherited neurological disorders that primarily affect the muscles. The most common and well-known type is Becker muscular dystrophy, which shares many similarities with Duchenne muscular dystrophy but is generally less severe. Both are X-linked recessive conditions, meaning they are caused by a mutation in a gene on the X chromosome and primarily affect males.

Becker muscular dystrophy results from a mutation in the DMD gene, which provides instructions for making a protein called dystrophin. Dystrophin is crucial for maintaining the strength and integrity of muscle fibers. In Becker muscular dystrophy, the body produces a shortened or altered form of dystrophin, which is still functional to some extent, unlike in Duchenne muscular dystrophy where dystrophin is largely absent or non-functional.

Symptoms typically appear in late childhood or adolescence and can include progressive muscle weakness and wasting, particularly in the thighs and pelvis. Affected individuals may experience difficulty walking, climbing stairs, or rising from a seated position. While the condition affects skeletal muscles, it can also impact the heart, leading to cardiomyopathy. The progression of Becker muscular dystrophy is variable, with some individuals experiencing only mild symptoms and maintaining ambulation into adulthood, while others may have more significant disability. Diagnosis is usually confirmed through genetic testing and muscle biopsy. There is no cure for Becker muscular dystrophy, but treatments focus on managing symptoms, maintaining muscle function through physical therapy and exercise, and addressing cardiac complications.