The diagnostic approach to the hypotonic and weak infant

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

The hypotonic infant is a common clinical scenario that is encountered by a pediatric neurologist. Such presentation can be nonspecific, making the diagnosis challenging. A systematic diagnostic approach is important to localization, beginning with distinguishing between central and peripheral causes of hypotonia. This chapter describes how to apply the clinical evaluation and ancillary testing including electrodiagnostic, biochemical, and genetic testing, imaging, and histopathological analysis to differentiate between neuropathic and myopathic disorders and then arrive to an etiology. This chapter describes the most common disorders including spinal muscular atrophies (SMA), neuropathies, and various forms of myopathic disorders such as congenital muscular dystrophies (CMDs) and congenital myopathies. In addition, we describe the management and treatment approach for infants with neuropathic and myopathic disorders. Availability of treatment for SMA with nusinersen is described, making an early diagnosis a high priority.

Original languageEnglish (US)
Title of host publicationClinical Handbook of Neuromuscular Medicine
PublisherSpringer International Publishing
Pages113-132
Number of pages20
ISBN (Electronic)9783319671161
ISBN (Print)9783319671154
DOIs
StatePublished - Jan 1 2018

Keywords

  • Congenital muscular dystrophies (CMDs)
  • Congenital myopathies
  • Congenital myotonic dystrophy (DM)
  • Hypotonic infant
  • Spinal muscular atrophy (SMA)

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