| Literature DB >> 25577286 |
Keith Van Haren1, Joshua L Bonkowsky2, Genevieve Bernard3, Jennifer L Murphy4, Amy Pizzino4, Guy Helman4, Dean Suhr5, Jacque Waggoner6, Don Hobson7, Adeline Vanderver8, Marc C Patterson9.
Abstract
Leukodystrophies are inherited disorders whose primary pathophysiology consists of abnormal deposition or progressive disruption of brain myelin. Leukodystrophy patients manifest many of the same symptoms and medical complications despite the wide spectrum of genetic origins. Although no definitive cures exist, all of these conditions are treatable. This report provides the first expert consensus on the recognition and treatment of medical and psychosocial complications associated with leukodystrophies. We include a discussion of serious and potentially preventable medical complications and propose several preventive care strategies. We also outline the need for future research to prioritize clinical needs and subsequently develop, validate, and optimize specific care strategies.Entities:
Keywords: Care; Consensus; Leukodystrophy; Outcomes; Prevention; Therapy
Mesh:
Year: 2014 PMID: 25577286 DOI: 10.1016/j.ymgme.2014.12.433
Source DB: PubMed Journal: Mol Genet Metab ISSN: 1096-7192 Impact factor: 4.797