Duchenneféle

Duchenneféle is a rare genetic disorder that affects muscles. It is a form of muscular dystrophy, which means it causes progressive weakening and degeneration of skeletal muscles. The condition is caused by a mutation in the DMD gene, which is responsible for producing a protein called dystrophin. Dystrophin is crucial for maintaining the structure and function of muscle cells.

The inheritance pattern of Duchenneféle is X-linked recessive, meaning it primarily affects males. Females can be carriers of the gene mutation but usually do not show symptoms, although some may experience mild muscle weakness. Symptoms typically appear in early childhood, usually between the ages of 2 and 5.

Common symptoms include delayed motor milestones such as walking, difficulty running or jumping, frequent falls, and a waddling gait. As the disease progresses, muscle weakness becomes more severe, affecting larger muscle groups in the legs, pelvis, and trunk. This can lead to the inability to walk by adolescence. Complications can extend beyond muscle weakness, affecting the heart and respiratory muscles.

There is no cure for Duchenneféle, but treatments focus on managing symptoms and improving quality of life. These may include physical therapy, occupational therapy, medications to manage heart and lung issues, and assistive devices. Research into gene therapy and other novel treatments is ongoing.