Respiratory management of congenital myasthenic syndromes in childhood: Workshop 8th December 2009, UCL Institute of Neurology, London, UK.

A workshop on the respiratory management of congenital myasthenic syndromes (CMS) in childhood was held on 8 December 2009 at the UCL Institute of Neurology, UK. The workshop was sponsored by the Muscular Dystrophy Campaign and attended by 20 participants from 9 centres (8 in UK and 1 in Europe). The aim of the workshop was to review respiratory management of childhood CMS in major UK specialist centres and develop recommendations for standards of care to help anticipate and treat respiratory complications. The congenital myasthenic syndromes are a heterogeneous group of genetic disorders which result in impaired neuromuscular transmission and fatiguable weakness. Advances in molecular genetic diagnosis have lead to the identification of distinct genotypes [1] which are associated with particular patterns of respiratory decompensation. Many CMS children present with respiratory difficulties at birth and most are at risk of ventilatory failure with intercurrent respiratory illnesses. However, recurrent, life-threatening episodic apnoea in infancy and childhood (often precipitated by infection or even stress) is a particular feature of the presynaptic CMS caused by mutations in CHAT and postsynaptic CMS due to mutations in RAPSN. Other phenotypes, such as the synaptic CMS due to mutations in COLQ and the slow channel syndromes caused by mutations in the acetylcholine receptor subunits, cause an end plate myopathy which results in progressive respiratory muscle weakness and respiratory failure requiring long term ventilatory support. The fast channel syndromes are associated with recurrent and particularly severe respiratory crises in infancy and childhood. Other genotypes have diverse respiratory presentations, for example the post-synaptic CMS caused by mutations in DOK7 may be associated, in severe cases, with respiratory failure requiring ventilation at birth, or congenital stridor due to vocal cord palsy often necessitating tracheostomy, without any evidence of the limb gir-