Pediatr. praxi. 2022;23(6):422-425
Possibilities of early diagnosis of Duchenne muscular dystrophy - recommendations for paediatricians
- Klinika dětské neurologie, FN Brno a LF MU, Brno
Duchenne muscular dystrophy (DMD) is with its incidence 1 : 5 000 newborn males the most frequent muscle disease in childhood. It is caused by mutation in dystrophin gene located on X chromosome. First symptoms of DMD include delayed motor milestones, difficult running or climbing stairs, later we can see weakness of shoulder girdle. Cardiomyopathy and respiratory failure most often occur in the third decade. Because of new treatment possibilities, it is necessary to confirm diagnose as soon as possible. E. g. ataluren as a treatment for DMD boys can be used from the age of 2 years. We should test creatine kinase (which elevation more than 100x is typical for DMD) in all boys suspected from DMD as well as in all boys when we do any blood tests.
Keywords: Duchenne muscular dystrophy, creatine kinase, ataluren.
Published: November 22, 2022 Show citation
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