| Abstract [eng] |
Duchenne muscular dystrophy is an X-linked inherited neuromuscular disorder caused by mutations in the dystrophin gene. This work presents clinical cases of two patients (boys aged 14 years 4 months and 5 years 5 months) with Duchenne muscular dystrophy and reviews diagnostic and therapeutic steps. The progression of the symptoms and treatment options for different mutations in the dystrophin gene are compared. Literature review is also presented, which addresses the aetiology of Duchenne muscular dystrophy, the differences between the genetic types and their clinical presentation. Here I present the diagnostic options, the importance of genetic testing and the impact of the identified gene mutation on the course of the disease and treatment options. The diagnostic options for respiratory disorders caused by the disease, the importance of genetic testing and the impact of the identified gene mutation on the course of the disease and decline of the respiratory system function, as well as treatment options, while focusing mostly on the respiratory system are also discussed. The principles of long-term respiratory monitoring in three different stages of the disease - ambulatory, non-ambulatory early stage and non-ambulatory late stage patients are discussed. Perspectives on the multidisciplinary treatment, focusing on symptomatic and rehabilitative management of the disease, treatment of complications and corticosteroid therapy are presented. Currently, the treatment options for Duchenne muscular dystrophy are rather limited, with aetiological treatments only available for certain gene mutations. In the remaining cases, symptomatic and rehabilitative treatment is the only option, with the aim of prolonging survival and preserving the patient's mobility and overall quality of life as long as possible. |
