Modern management of spinal muscular atrophy

Research output: Contribution to journalReview article

56 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)974-978
Number of pages5
JournalJournal of child neurology
Volume22
Issue number8
DOIs
StatePublished - Aug 1 2007

Keywords

  • Restrictive lung disease
  • Spinal muscular atrophy

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

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