Spinal muscular atrophy in the neonate

J Obstet Gynecol Neonatal Nurs. Jan-Feb 2004;33(1):12-20. doi: 10.1177/0884217503261125.

Abstract

Spinal muscular atrophy (SMA) type I is an autosomal recessive disorder characterized by loss of lower motor neurons in the spinal cord. This severe hereditary neurodegenerative disorder is an important cause of morbidity in the neonate and the leading hereditary cause of infant mortality. The characteristic degeneration of anterior horn cells in the spinal cord leads to progressive muscular weakness and atrophy of the skeletal muscles. In SMA type I, the most severe form of SMA, death usually ensues by 2 years of age from respiratory failure or infection. Accurate diagnosis is now available through genetic testing, and progress is being made toward the development of therapy based on understanding of the disease mechanism. The neonatal nurse plays a pivotal role in identifying and caring for these medically fragile infants and in providing support and education for parents and families.

Publication types

  • Review

MeSH terms

  • Chromosome Deletion
  • Chromosomes, Human, Pair 5 / genetics
  • Cyclic AMP Response Element-Binding Protein
  • DNA Mutational Analysis / methods
  • Disease Progression
  • Genes, Recessive / genetics
  • Genetic Carrier Screening / methods
  • Genetic Testing / methods
  • Humans
  • Infant, Newborn
  • Information Services
  • Internet
  • Muscular Atrophy, Spinal* / diagnosis
  • Muscular Atrophy, Spinal* / genetics
  • Muscular Atrophy, Spinal* / therapy
  • Neonatal Nursing / methods
  • Nerve Tissue Proteins / genetics
  • Neuroprotective Agents / therapeutic use
  • Nurse's Role
  • Parents / education
  • Parents / psychology
  • Polymerase Chain Reaction / methods
  • Prenatal Diagnosis / methods
  • Prognosis
  • RNA-Binding Proteins
  • SMN Complex Proteins
  • Social Support

Substances

  • Cyclic AMP Response Element-Binding Protein
  • Nerve Tissue Proteins
  • Neuroprotective Agents
  • RNA-Binding Proteins
  • SMN Complex Proteins