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Neurológia pre prax 2/2010
Congenital myasthenic syndromes and childhood myasthenia gravis
We encounter both acquired and congenital disorders of neuromuscular transmission during childhood. Juvenile myasthenia gravis and transient neonatal myasthenia gravis are classified as acquired and autoimmune disorders. Congenital disorders of neuromuscular transmission are heterogenous genetically determined disorders which are known as congenital myasthenic syndromes. This review is dealing with their pathogenesis, classification, clinical and laboratory characteristics, various difficulties in the area of diagnosis including molecular genetic analysis and their treatment.
Keywords: congenital myasthenic syndromes, juvenile myasthenia gravis, transient neonatal myasthenia gravis, molecular genetic analysis, prenatal diagnosis.
