Pediatria pre prax 2/2019
New therapies in neuromuscular disorders in childhood
Neuromuscular disorders are disorders affecting peripheral nerves, neuromuscular junction, and muscles. Clinically, these disorders most frequently cause progressive muscle weakness. By incidence, these disorders are rare. Nevertheless, they are very severe; they cause high invalidity, and can lead to loss of ambulation, the necessity of ventilation support, and shortening of life expectancy together with keeping normal cognition. In recent years, mostly due to the development of genetics, new knowledge about the pathogenesis has grow exponentially and new drugs have been developed. The new therapy based on modification of gene transcription and translation is very promising.
Keywords: neuromuscular disorders, diagnostic, therapy, small molecules
