Neurológia pre prax 3/2019

Muscular dystrophy in childhood

Muscular dystrophies are a heterogeneous group of inherited rare disorders that is characterized by progressive muscular weakness and a dystrophic pattern in muscular biopsy. As these disorders are inherited, the first symptoms typically appear during childhood. In the last few years, mainly due to the new genetic possibilities, this area is changing. There is an increase of diagnostic clarity (in our Centre it is more than 90 %) and an improvement in symptomatic care; and due to this, an increase of life expectancy and quality of life. Now, there are the first possibilities of causal therapy. In the article there is a description of the most common type of muscular dystrophies in childhood, diagnostic tools and therapy.

Keywords: muscular dystrophy, childhood, limb girdle muscular dystrophy, facioscapulohumeral muscular dystrophy, congenital muscular dystrophy