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Motion analysis of a child with Niemann–Pick disease type C treated with miglustat

✍ Scribed by Alex R. Paciorkowski; Melany Westwell; Sylvia Õunpuu; Katharine Bell; Jeanne Kagan; Cindy Mazzarella; Robert M. Greenstein

Publisher: John Wiley and Sons
Year: 2008
Tongue: English
Weight: 143 KB
Volume: 23
Category: Article
ISSN: 0885-3185
DOI: 10.1002/mds.21779

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✦ Synopsis

Abstract

Niemann–Pick disease type C (NPC) is a progressive neurodegenerative disorder for which there is no effective treatment other than supportive therapy. Recently, the oral medication miglustat has been offered as a possible therapy aimed at reducing pathological substrate accumulation. This article describes the use of computerized three‐dimensional motion analysis to evaluate a 3‐year‐old child with NPC treated with miglustat for 12 months. Motion analysis provided quantitative data on the patient's gait. However, dementia and motor dysfunction progressed despite the treatment, and the patient lost the ability to walk between 9 and 12 months of the study. Motion analysis should be considered among the tools for measuring functional outcomes in future therapeutical trials of patients with neurodegenerative diseases. It is not possible to draw conclusions about miglustat therapy in NPC from a single patient experience. © 2007 Movement Disorder Society

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