Publication at Second Faculty of Medicine |
2018
Abstract
Neuromuscular disorders are disorders affecting peripheral nerves, neuromuscular junction, and muscles. Clinically, these disordersmost frequently cause progressive muscle weakness.
By incidence, these disorders are rare. Nevertheless, they are verysevere; they cause high invalidity, and can lead to loss of ambulation, the necessity of ventilation support, and shortening of lifeexpectancy together with keeping normal cognition.
In recent years, mostly due to the development of genetics, new knowledgeabout the pathogenesis has grow exponentially and new drugs have been developed. The new therapy based on modificationof gene transcription and translation is very promising.