Neurol. praxi. 2019;20(3):180-182 | DOI: 10.36290/neu.2019.111
Duchenne muscular dystrophy
- 1 Neuromuskulární centrum Kliniky dětské neurologie FN Brno a LF MU, Brno
- 2 Neuromuskulární centrum Kliniky dětské neurologie FN Motol, Praha
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.
Keywords: Duchenne/Becker muscular dystrophy, dystrophin, creatinkinase, ataluren, multidisciplinary care
Published: June 12, 2019 Show citation
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