Modern management of spinal muscular atrophy

Research output: Contribution to journalArticle

55 Citations (Scopus)

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 2007

Fingerprint

Spinal Muscular Atrophy
Noninvasive Ventilation
Standard of Care
Lung Diseases
Sleep Apnea Syndromes
Live Birth
Motor Neurons
Constipation
Deglutition Disorders
Respiratory System
Genes
Orthopedics
Quality of Life
Technology
Morbidity
Mortality

Keywords

  • Restrictive lung disease
  • Spinal muscular atrophy

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health

Cite this

Modern management of spinal muscular atrophy. / Iannaccone, Susan T.

In: Journal of Child Neurology, Vol. 22, No. 8, 08.2007, p. 974-978.

Research output: Contribution to journalArticle

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