Treatment and Management of Spinal Muscular Atrophy and Congenital Myopathies

Diana Castro, Alicia Henriquez

Research output: Chapter in Book/Report/Conference proceedingChapter


Spinal muscular atrophy (SMA) and the congenital myopathies (CMs) typically present in neonatal, infantile, and early childhood ages with hypotonia and weakness. Organs that may be involved include heart, lungs, gastrointestinal tract, eyes, spine, and joints, especially in CMs. In this chapter, we discuss the clinical presentations of these disorders while highlighting the genetic and pathophysiologic variability. We review the advances in genetic testing and the development of targeted gene therapies that have altered the natural course of these disorders, in particular SMA. Importantly, we focus on supportive management by systems and screening for complications which remain key components of patient care and have a profound effect on quality of life.

Original languageEnglish (US)
Title of host publicationNeuromuscular Disorders
Subtitle of host publicationTreatment and Management
Number of pages17
ISBN (Electronic)9780323713177
StatePublished - Jan 1 2021


  • Antisense oligonucleotide (ASO)
  • Congenital myopathy (CM)
  • Gene replacement therapy (GRT)
  • Gene-based therapy
  • Hypotonia
  • Spinal muscular atrophy (SMA)
  • Weakness

ASJC Scopus subject areas

  • Medicine(all)


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