Neurológia pre prax 1/2022
Congenital myasthenic syndromes: rare, but treatable diseases
Congenital myasthenic syndromes (CMS) are very rare and very variable. Recognition is not easy, but they are treatable diseases. Effect of treatment is variable, in some cases minimal, in some cases fundamentally changes the quality of life, it can mean the difference between life and death. Know-how and a single tube of blood for genetic testing could be sufficient for diagnosis. We present an overview of clinical symptoms, pathophysiology and classification of CMS types, diagnosis, differential diagnosis and treatment options.
Keywords: congenital myasthenic syndromes, neuromuscular junction, respiratory failure
