Authors: J. Hálek 1,2; M. Neklanová 1; P. Seeman 3 Authors‘ workplace: Dětská klinika Lékařské fakulty UP a Fakultní nemocnice, Olomouc přednosta prof. MUDr. V. Mihál, CSc. 1; Ústav lékařské biofyziky Lékařské fakulty UP, Olomouc přednosta prof. Ing. J. Hálek, CSc. 2; Centrum lékařské genetiky a reprodukční medicíny GENNET, Praha vedoucí MUDr. D. Stejskal 3 Published in: Čes-slov Pediat 2007; 62 (6): 393-397. Category: Case Report
Congenital myasthenic syndromes (CMS) belong to diseases affected neuromuscular transmission. They are characterized by muscular weakness of the “myasthenic” type manifested in the early period of life. Their clinical manifestations are based on heterogeneous disorders of neuromuscular plate function in the presynaptic, synaptic and postsynaptic area. The disease may be rather frequently encountered in the European Gipsy population, where it is predominantly caused by homozygous mutation in the CHRNE gene (1267delG); it becomes manifest from the early age by oculomotoric disorders and ptosis, later by frequent and severe respiratory infections, mastication and swallowing disorders. A general muscular weakness at the early age is not a dominant sign. The case report illustrates a typical course of the disease and summarizes the knowledge on the diagnostic and therapy.
Key words: congenital myasthenic syndromes, muscular weakness, neuromuscular connection
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