Clinical Reasoning: A 23-Year-Old Woman Presenting With Cognitive Impairment and Gait Disturbance

Metachromatic leukodystrophy (MLD) is a rare inherited lysosomal disorder. The condition progresses relentlessly, with severe disability typically established within 6–14 years of symptom onset. There is no cure, and limited treatment options are available to slow disease progression. We describe th...

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Veröffentlicht in:	Neurology 2022-11, Vol.99 (22), p.997-1003
Hauptverfasser:	Chaity, Dimitra Khalil, Fearon, Conor, Alexander, Michael, Walsh, John, Austin, Neil, O'Byrne, James, Pastores, Gregory, Merwick, Aine, Saif, Muhammad, O'Dowd, Sean
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Clinical Reasoning Cognitive Dysfunction - complications Cognitive Dysfunction - etiology Disease Progression Female Gait Humans Leukodystrophy, Metachromatic - complications Leukodystrophy, Metachromatic - diagnosis Leukodystrophy, Metachromatic - therapy Leukoencephalopathies - complications Male Young Adult
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