Final answer:
Duchenne muscular dystrophy is a genetic disorder characterized by progressive muscle weakness due to a lack of dystrophin. Symptoms start in early childhood and treatments are aimed at symptom management as no cure exists yet. Genetic testing and physical assessments guide evaluation, and the MDA funds ongoing research.
Step-by-step explanation:
Duchenne Muscular Dystrophy (DMD)
Duchenne muscular dystrophy (DMD) is a severe type of muscular dystrophy that results in muscle weakness and degeneration. The main cause of DMD is a mutation in a gene responsible for producing the protein dystrophin, an essential component for maintaining muscle integrity. Without sufficient dystrophin, muscle fibers become damaged and progressively weaken.
Manifestations of DMD typically appear in early childhood, with symptoms such as difficulty walking, frequent falls, and difficulties with balance and motor skills. As the condition progresses, muscle weakness extends from the lower limbs to the upper body, eventually affecting breathing and heart function. Diagnoses of DMD are often confirmed by genetic testing, blood tests for enzyme levels, muscle biopsies, and electrodiagnostic studies.
Current treatments for DMD focus on managing symptoms and complications. These may include physical therapy, drug therapy like corticosteroids to slow muscle degeneration, and orthopedic appliances to aid mobility. In advanced stages, ventilatory support may be necessary. While there is no cure, research funded by organizations such as the Muscular Dystrophy Association (MDA) continues, seeking effective treatments and ultimately a cure.