Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies

Laura A. Adang, Omar Sherbini, Laura Ball, Miriam Bloom, Anil Darbari, Hernan Amartino, Donna DiVito, Florian Eichler, Maria Escolar, Sarah H. Evans, Ali Fatemi, Jamie Fraser, Leslie Hollowell, Nicole Jaffe, Christopher Joseph, Mary Karpinski, Stephanie Keller, Ryan Maddock, Edna Mancilla, Bruce McClaryJana Mertz, Kiley Morgart, Thomas Langan, Richard Leventer, Sumit Parikh, Amy Pizzino, Erin Prange, Deborah L. Renaud, William Rizzo, Jay Shapiro, Dean Suhr, Teryn Suhr, Davide Tonduti, Jacque Waggoner, Amy Waldman, Nicole I. Wolf, Ayelet Zerem, Joshua L. Bonkowsky, Genevieve Bernard, Keith van Haren, Adeline Vanderver*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Abstract

Leukodystrophies are a broad class of genetic disorders that result in disruption or destruction of central myelination. Although the mechanisms underlying these disorders are heterogeneous, there are many common symptoms that affect patients irrespective of the genetic diagnosis. The comfort and quality of life of these children is a primary goal that can complement efforts directed at curative therapies. Contained within this report is a systems-based approach to management of complications that result from leukodystrophies. We discuss the initial evaluation, identification of common medical issues, and management options to establish a comprehensive, standardized care approach. We will also address clinical topics relevant to select leukodystrophies, such as gallbladder pathology and adrenal insufficiency. The recommendations within this review rely on existing studies and consensus opinions and underscore the need for future research on evidence-based outcomes to better treat the manifestations of this unique set of genetic disorders.

Original languageEnglish
JournalMolecular Genetics and Metabolism
Volume122
Issue number1-2
DOIs
Publication statusPublished - Sep 2017

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