SUMMARY
Duchenne muscular dystrophy (DMD) is the most common and one of the most serious childhood diseases. It is an X – linked recessive neuromuscular disease, caused by mutations in the dystrophin gene, primarily resulting in skeletal and heart muscle abnormalities. In most boys, the first signs of the disease appear as progressive muscle weakness between the ages of 3 and 5 years. The muscle weakness is more pronounced in the proximal muscles, initially affecting the lower limbs to a greater extent than the upper limbs. Untreated, the disease progresses and will cause a serious decline of motor function by the age of 10 to 11 years, when the patients require wheelchairs even for travelling short distances. The progressive respiratory muscle failure results in chronic respiratory insufficiency and the patients require ventilatory support. Heart muscle involvement is consistent, studies showing that cardiomyopathy is present in all patients by the age of 18. The diagnosis of DMD is based on laboratory and genetic testing in patients with suspect clinical manifestations. If genetic testing is negative, muscle biopsy is necessary to confirm the diagnosis in highly suspect cases. Treatment of DMD patients requires a multidisciplinary approach, which coupled with corticosteroid treatment, physical therapy, supportive treatment and specific aids, have led to increased longevity and improved quality of life in these patients. Several drugs are being developed, targeting both the reduction of muscle damage, as well as the basic genetic cause of the disease.