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

Autor:	Poulos J; Paediatrics, University College London Medical School, London WC1E 6BT, UK., Samuels M; Respiratory Medicine, Great Ormond Street Hospital, London WC1N 3JH, UK., Palace J; University of Oxford and Department of Neurology, Oxford Radcliffe Hospitals, Oxford OX3 9DU, UK., Beeson D; Neurology, Nuffield Department of Clinical Neurosciences, Oxford OX3 7BN, UK., Robb S; Dubowitz Neuromuscular Centre, Great Ormond Street Hospital, London WC1N 3JH, UK., Ramdas S; Neurology, MDUK Neuromuscular Centre, Oxford University Hospitals, Oxford OX3 9DU, UK., Chan S; Dubowitz Neuromuscular Centre, Great Ormond Street Hospital, London WC1N 3JH, UK.; Neurosciences, University College London and Institute of Child Health, London WC1N 1EH, UK., Munot P; Dubowitz Neuromuscular Centre, Great Ormond Street Hospital, London WC1N 3JH, UK.; Neurosciences, University College London and Institute of Child Health, London WC1N 1EH, UK.
Jazyk:	angličtina
Zdroj:	Brain communications [Brain Commun] 2023 Nov 09; Vol. 5 (6), pp. fcad299. Date of Electronic Publication: 2023 Nov 09 (Print Publication: 2023).
DOI:	10.1093/braincomms/fcad299
Abstrakt:	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 cohort of 40 well characterized genetically confirmed cases of congenital myasthenic syndromes, including 10 distinct subtypes (DOK7, COLQ, RAPSN, CHAT, CHRNA1, CHRNG, COL13A1, CHRNE, CHRNE fast channel syndrome and CHRNA1 slow channel syndrome), with many followed up over 20 years in our centre. A quantitative and longitudinal analysis of key spirometry and sleep study parameters, as well as a description of historical hospital admissions for respiratory decompensation, provides a snapshot of the respiratory trajectory of congenital myasthenic syndrome patients based on genotype. Competing Interests: J.P. has received support for advisory work and received a grant from Amplo Biotechnology. (© Crown copyright 2023.)
Databáze:	MEDLINE
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