Dystrophinopathies

Abstract

The dystrophinopathies are a spectrum of progressive muscular dystrophies that are caused by the absence of or de-crease 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 multidisci-plinary management of the patient in specialized centres for neuromuscular diseases.