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Modern Management of Spinal Muscular Atrophy

University of Texas Southwestern Medical Center, Dallas, Texas, susan.iannaccone{at}utsouthwestern.edu

Spinal muscular atrophy is an incurable disease with a frequency of 8 per 100 000 live births. The disease gene, survival motor neuron 1 (SMN1), was identified with a disease modifying gene, SMN2. There is a high mortality rate in infancy and severe morbidity in childhood. Management depends on treating or preventing complications of weakness and maintaining quality of life. Weakness may affect several organ systems: respiratory, due to restrictive lung disease; gastrointestinal, in terms of dysphagia and constipation; and orthopedic, with progressive deformities. This review focuses on management of restrictive lung disease, the most common and most serious complication. Three areas of recent development are noninvasive ventilation using new technology, new awareness of the importance of identifying sleep-disordered breathing, and a new multidisciplinary approach to standard of care. Noninvasive ventilation and improved airway clearance are helpful for preoperative and postoperative management. Standard of care requires a multidisciplinary approach.

Key Words: spinal muscular atrophy • restrictive lung disease

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Journal of Child Neurology, Vol. 22, No. 8, 974-978 (2007)
DOI: 10.1177/0883073807305670


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This Article Abstract Free Full Text (Free PDF) Free Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in Web of Science Similar articles in PubMed Alert me to new issues of the journal Add to Saved Citations Download to citation manager Request Permissions Request Reprints Add to My Marked Citations Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Citing Articles via Scopus Google Scholar Articles by Iannaccone, S. T. Search for Related Content PubMed PubMed Citation Articles by Iannaccone, S. T. Pubmed/NCBI databases Genetics Home Reference Medline Plus Health Information Lung Diseases Social Bookmarking                         What's this?