Diagnosis and management of spinal muscular atrophy

Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care

SMA Care Group

Research output: Contribution to journalArticle

62 Citations (Scopus)

Abstract

Spinal muscular atrophy (SMA) is a severe neuromuscular disorder due to a defect in the survival motor neuron 1 (SMN1) gene. Its incidence is approximately 1 in 11,000 live births. In 2007, an International Conference on the Standard of Care for SMA published a consensus statement on SMA standard of care that has been widely used throughout the world. Here we report a two-part update of the topics covered in the previous recommendations. In part 1 we present the methods used to achieve these recommendations, and an update on diagnosis, rehabilitation, orthopedic and spinal management; and nutritional, swallowing and gastrointestinal management. Pulmonary management, acute care, other organ involvement, ethical issues, medications, and the impact of new treatments for SMA are discussed in part 2.

Original languageEnglish (US)
Pages (from-to)103-115
Number of pages13
JournalNeuromuscular Disorders
Volume28
Issue number2
DOIs
StatePublished - Feb 1 2018

Fingerprint

Spinal Muscular Atrophies of Childhood
Spinal Muscular Atrophy
Orthopedics
Rehabilitation
Standard of Care
Live Birth
Motor Neurons
Deglutition
Ethics
Lung
Incidence
Genes

Keywords

  • Care
  • Diagnosis
  • Nutrition
  • Orthopedic
  • Phisotherapy
  • Spinal muscular atrophy

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Neurology
  • Clinical Neurology
  • Genetics(clinical)

Cite this

Diagnosis and management of spinal muscular atrophy : Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. / SMA Care Group.

In: Neuromuscular Disorders, Vol. 28, No. 2, 01.02.2018, p. 103-115.

Research output: Contribution to journalArticle

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