| Literature DB >> 28863857 |
Laura A Adang1, Omar Sherbini2, Laura Ball3, Miriam Bloom4, Anil Darbari5, Hernan Amartino6, Donna DiVito2, Florian Eichler7, Maria Escolar8, Sarah H Evans3, Ali Fatemi9, Jamie Fraser10, Leslie Hollowell11, Nicole Jaffe12, Christopher Joseph9, Mary Karpinski13, Stephanie Keller14, Ryan Maddock15, Edna Mancilla16, Bruce McClary9, Jana Mertz17, Kiley Morgart18, Thomas Langan19, Richard Leventer20, Sumit Parikh21, Amy Pizzino2, Erin Prange2, Deborah L Renaud22, William Rizzo23, Jay Shapiro9, Dean Suhr24, Teryn Suhr24, Davide Tonduti25, Jacque Waggoner26, Amy Waldman1, Nicole I Wolf27, Ayelet Zerem28, Joshua L Bonkowsky29, Genevieve Bernard30, Keith van Haren31, Adeline Vanderver32.
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.Entities:
Keywords: Care; Consensus; Leukodystrophy; Outcomes; Prevention; Therapy
Mesh:
Year: 2017 PMID: 28863857 PMCID: PMC8018711 DOI: 10.1016/j.ymgme.2017.08.006
Source DB: PubMed Journal: Mol Genet Metab ISSN: 1096-7192 Impact factor: 4.797