Neurol. praxi. 2012;13(4):195-197
Congenital muscular dystrophies
- 1 Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada
- 2 Klinika dětské neurologie, UK 2. LF a FN Motol, Praha
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 confirmed by molecular testing or by immunohistochemistry. Treatment is symptomatic, interdisciplinary.
Genetic counselling should be available for teenagers and families.
Keywords: congenital muscular dystrophy, classification, immunohistochemistry, gene mutation
Published: July 31, 2012 Show citation
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