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Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.

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Adrenoleukodystrophy secondary prevention

Introduction

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Overview

Overview

The objective of secondary prevention in adrenoleukodystrophy is to diagnose it early, preferably before neurological symptoms appear so as to prevent nerve cell damage from occurring, initiating timely adrenal steroid replacement therapy following detection of adrenal insufficiency, and for providing allogeneic hematopoietic stem cell transplantation (HSCT) as a means of treating cerebral ALD. In February 2016, adrenoleukodystrophy was added to the Recommended Uniform Screening Panel (RUSP) in the USA, which is the federal list of all genetic diseases recommended for state newborn screening programs.

Secondary Prevention

Secondary Prevention

The objective of secondary prevention in adrenoleukodystrophy is to diagnose it early, preferably before neurological symptoms appear so as to prevent nerve cell damage from occurring, initiating timely adrenal steroid replacement therapy following detection of adrenal insufficiency, and for providing allogeneic hematopoietic stem cell transplantation (HSCT) as a means of treating cerebral ALD. In February 2016, adrenoleukodystrophy was added to the Recommended Uniform Screening Panel (RUSP) in the USA[1], which is the federal list of all genetic diseases recommended for state newborn screening programs.

References

References

  1. ↑ Kemper AR, Brosco J, Comeau AM, Green NS, Grosse SD, Jones E; et al. (2017). “Newborn screening for X-linked adrenoleukodystrophy: evidence summary and advisory committee recommendation”. Genet Med. 19 (1): 121–126. doi:10.1038/gim.2016.68. PMC 5182180. PMID 27337030.

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: