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Abstract

Here is a typical scenario which is relevant when looking at several other progressive and life-threatening genetic disorders. A child with spinal muscular atrophy (SMA I) is due to be born in five months, proven by prenatal diagnosis. The parents lost two infants several years ago. What are their options? How can we advise, manage, and draw up a plan in the meantime? A few years ago, we had almost zero options apart from standard care measures, such as respiratory support, adequate nutrition, vaccinations, physiotherapy and similar; in other words, the situation was desperate.

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How to Cite
Topaloglu, H. (2021). Expensive molecular therapies for rare genetic disorders: carrier detection or newborn screening should be the strategy. A personal opinion. Journal of the International Child Neurology Association, 1(1). https://doi.org/10.17724/jicna.2021.225
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