Duchenne muscular dystrophy

Also known as DMD, Duchenne-type muscular dystrophy, severe dystrophinopathy, pseudohypertrophic progressive muscular dystrophy

neuromuscular disease characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle

Key facts

Pronunciation: / d uː ˈ ʃ ɛ n /
Specialty: Pediatric neurology , neuromuscular medicine , medical genetics
Symptoms: Muscle weakness , trouble standing up, scoliosis
Usual onset: Around age 4
Causes: Genetic ( X-linked recessive )
Diagnostic method: Genetic testing
Treatment: Pharmacological treatment, physical therapy , braces , speech therapy, occupational therapy, surgery, assisted ventilation
Medication: Corticosteroids
Prognosis: life expectancy of 21–40 years
Frequency: In males, 1 in 3,500–6,000 , In females, 1 in 50,000,000

via Wikipedia infobox

Research

16,537 papers

Article

Duchenne muscular dystrophy (DMD) is a severe type of muscular dystrophy predominantly affecting boys. The onset of muscle weakness typically begins around age four, with rapid progression. Initially, muscle loss occurs in the thighs and pelvis, extending to the arms, which can lead to difficulties in standing up. By the age of 12, most individuals with Duchenne muscular dystrophy are unable to walk. Affected muscles may appear larger due to an increase in fat content, and scoliosis is common. Some individuals may experience intellectual disability, and females carrying a single copy of the mutated gene may show mild symptoms.

Duchenne muscular dystrophy is caused by mutations or deletions in any of the 79 exons encoding the large dystrophin protein, which is essential for maintaining the muscle fibers' cell membrane integrity. The disorder follows an X-linked recessive inheritance pattern, with approximately two-thirds of cases inherited from the mother and one-third resulting from a new mutation. Diagnosis can frequently be made at birth through genetic testing, and elevated creatine kinase levels in the blood are indicative of the condition.