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Paediatr Respir Rev. 2008 Mar;9(1):45-50; quiz 50; discussion 55-6. doi: 10.1016/j.prrv.2007.11.003. Epub 2008 Feb 1.

The use of mechanical ventilation is appropriate in children with genetically proven spinal muscular atrophy type 1: the motion for.

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Department of Physical Medicine and Rehabilitation, UMDNJ-New Jersey Medical School, University Hospital, Newark, NJ 07103, USA.


The purpose of this paper is to report prolongation of survival for Werdnig-Hoffman's disease (spinal muscular atrophy type 1, SMA 1) by use of non-invasive respiratory muscle aids compared with tracheostomy, and to present reasons for offering this as an option to the parents of these children. Ninety per cent of typical untreated SMA 1 patients die before 12 months of age and 100% by 24 months of age. Tracheostomy can prolong survival to over 20 years of age in some cases, but patients with tubes do not develop the ability to speak and lose all ability to breathe from the point of the tracheotomy. In contrast, the majority of non-invasively managed SMA 1 patients develop the ability to communicate verbally and maintain some autonomous breathing ability. Clinicians' treatment paradigms associate ventilatory support with invasive tubes and do not recognise aiding respiratory muscles. Clinicians also significantly underestimate the care providers' view of the patient's quality of life. As a result, they rarely offer non-invasive means to prolong life. In conclusion, both non-invasive aids and tracheostomy can prolong survival for SMA 1 patients, and it should be left up to the family to decide which, if either, they would like to use.

[Indexed for MEDLINE]

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