Dystrophinopathies

Česká verzia

Authors: P. Balážová; K. Viestová; Dystrofinopatie M. Kolníková
Authors place of work: Klinika detskej neurológie, Lekárska fakulta Univerzity Komenského Národný ústav detských chorôb, Bratislava
Published in the journal: Čes-slov Pediat 2022; 77 (4): 198-205.
Category: Comprehensive Report
doi: https://doi.org/10.55095/CSPediatrie2022/032

Summary

The dystrophinopathies are a spectrum of progressive muscular dystrophies that are caused by the absence of or decrease in the function of dystrophin protein. The dystrophinopathies include Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD) and DMD-associated dilated cardiomyopathy (DCM). Due to the incidence in the population, dystrophinopathy is one of the most common neuromuscular diseases of childhood. In clinical picture we can usually find delayed motor development, progressive muscle weakness, calf pseudohypertrophy and Gowers‘ sign. Based on clinical symptoms and initial tests (the finding of elevated creatine kinase), the diagnosis is made by molecular genetic testing. In therapy, corticosteroid therapy is recommended as standard treatment with multidisciplinary management of the patient in specialized centres for neuromuscular diseases.

Keywords:

Duchenne muscular dystrophy – Becker muscular dystrophy – dystrophinopathies

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