Congenital myasthenic syndromes: a retrospective natural history study of respiratory outcomes in a single centre.

ABSTRACT: Respiratory problems are a major cause of morbidity and mortality in patients with congenital myasthenic syndromes, a rare heterogeneous group of neuromuscular disorders caused by genetic defects impacting the structure and function of the neuromuscular junction. Recurrent, life-threatening episodic apnoea in early infancy and childhood and progressive respiratory failure requiring ventilation are features of certain genotypes of congenital myasthenic syndromes. Robb et al. published empirical guidance on respiratory management of the congenital myasthenic syndromes, but other than this workshop report, there are little published longitudinal natural history data on respiratory outcomes of these disorders. We report a retrospective, single-centre study on respiratory outcomes in a c

SUBMITTER: Poulos J 

PROVIDER: S-EPMC10684295 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature