Duchennova svalová dystrofie
| Title in English | Duchenne muscular dystrophy |
|---|---|
| Authors | |
| Year of publication | 2019 |
| Type | Article in Periodical |
| Magazine / Source | Neurologie v praxi |
| MU Faculty or unit | |
| Citation | |
| Web | https://www.neurologiepropraxi.cz/artkey/neu-201903-0004_duchennova_svalova_dystrofie.php |
| Keywords | Duchenne/Becker muscular dystrophy; dystrophin; creatinkinase; ataluren; multidisciplinary care |
| Description | Duchenne/Becker muscular dystrophy, caused by mutations in dystrophin gene,is one of the most frequent muscular dystrophies. First symptoms of DMD include delayed motor milestones, difficult running or climbing stairs. Boys with DMD use the Gower´s maneuver to arise from floor. Cardiomyopathy and respiratory failure most often occur in the third decade. Diagnostical process is based on clinical picture, blood tests results (esp. elevated CK) and confirmation on molecular genetic base. Treatment aims to control symptoms. New drugs in clinical practice as well as in clinical trials together with better multidisciplinary care can prolong patients life and improve its quality. |