metachromatic leukodystrophy
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leukodystrophymyelindemyelinationlipidenzymedeficiencymutationgeneautosomalrecessiveinheritanceneurologywhite matterbrainspinal cordnervous systemataxiaspasticityparesthesiacognitivedementiamotor skillgaitreflexhyperreflexiaclonusdysarthriadysphagiaseizureMRIbiopsyurinebiomarkerlysosomestorage diseasemetabolismcatabolismsubstratechromatindyestainhistologypathologypediatricsgeneticstherapytransplantstem cellbone marrowgene therapyprognosissymptomdisabilitywheelchairphysiotherapyoccupational therapyspeech therapypalliative care