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Abstract

Infantile hypotonia is a common presenting symptom. There are various causes for neonatal hypotonia including systemic illness such as sepsis and congenital cardiac disease among others. With regards to neurological hypotonia, CNS disorders such as metabolic disorders, brain malformations and neonatal encephalopathy including hypoxic ischemic encephalopathy and early epileptic encephalopathy are among the important causes. Neuromuscular disorders form an important group of disorders that should be actively sought and evaluated in neonates presenting with hypotonia; with new treatments available for patients with spinal muscular atrophy (SMA) and congenital myasthenia, which makes early screening and diagnosis essential for good care given the effectiveness of the treatments available including gene therapy. The importance of genetic counseling and prevention of recurrence is also imperative in conditions that have a specific treatment such as Merosin deficient congenital muscular dystrophy and similar disorders. This presentation will discuss the common causes of hypotonia in neonates and young infants and a diagnostic scheme for such children with some guidance on the priority of testing and evaluation.

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/content/papers/10.5339/qproc.2020.NMD.16
2020-09-15
2020-09-27
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http://instance.metastore.ingenta.com/content/papers/10.5339/qproc.2020.NMD.16
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