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Mol Genet Metab ; 114(4): 516-26, 2015 Apr.
Article in English | MEDLINE | ID: mdl-25577286

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.


Subject(s)
Demyelinating Diseases , Leukoencephalopathies , Demyelinating Diseases/diagnosis , Demyelinating Diseases/therapy , Disease Management , Humans , Leukoencephalopathies/diagnosis , Leukoencephalopathies/therapy , Myelin Sheath/physiology
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