Neurológia pre prax 4/2012
Congenital muscular dystrophies
Congenital muscular dystrophies are genetic muscle diseases. They present with early hypotonia and muscle weakness. The muscle biopsy is characterized by dystrophic or myopathic changes. There are several subtypes of congenital muscular dystrophy. The vast majority of the diagnoses are con rmed by molecular testing or by immunohistochemistry. Treatment is symptomatic, interdisciplinary. Genetic counselling should be available for teenagers and families.
Keywords: congenital muscular dystrophy, classi fication, immunohistochemistry, gene mutation.
