Ventilatory Support in Congenital Neuromuscular Disorders: Congenital Myopathies, Congenital Muscular Dystrophies, Congenital Myotonic Dystrophy and SMA (II)

Number 117
Date 4 April 2003

Eighteen participants from Austria, Denmark, Finland, France, Germany, The Netherlands, the UK, and the USA met in Naarden, representing a variety of disciplines with experience in the respiratory management of patients with neuromuscular diseases. As much data exist on the natural history and management of respiratory impairment in DMD, this meeting concentrated on other childhood neuromuscular diseases including the congenital muscular dystrophies, spinal muscular atrophy type 2 and the congenital myopathies. The accumulated experience of the group included over 500 patients with these disorders, of whom overall around one third were receiving some kind of ventilatory support.
The aims of this workshop were two-fold. The first was to improve the situation for patients around the world with respiratory problems due to neuromuscular disorders who may not currently be receiving adequate medical attention. This was addressed by defining the scope of the respiratory problems in these disorders and by developing practically applicable guidelines for the diagnosis and treatment of respiratory insufficiency in this group of patients. The guidelines were developed at the workshop based on review of the published evidence base and the experience and current clinical practise of the assembled expert group. A set of guidelines for the assessment and treatment of these diseases was generated and will be published in Neuromuscular Disorders. An important message of the workshop was that patients with these disorders may be at risk of respiratory problems but proper management of these problems can be very effective.
The second aim was to address the current shortages of sound scientific data on the efficacy of assessment techniques, prophylactic measures and various modes of treatment for respiratory insufficiency due to neuromuscular disorders, in particular for children with congenital conditions.

An extended report of this meeting is published in Neuromuscular Disorders, Volume 14, No. 1, January 2004.

Dr. C. Wallgren-Pettersson (Finland)
Prof. K. Bushby (United Kingdom)
Dr. U. Mellies (Germany