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

被引:15
作者
Paciorkowski, Alex R. [1 ]
Westwell, Melany [2 ]
Ounpuu, Sylvia [2 ]
Bell, Katharine [2 ]
Kagan, Jeanne [3 ]
Mazzarella, Cindy [4 ]
Greenstein, Robert M. [1 ,5 ]
机构
[1] Univ Connecticut, Ctr Hlth, Dept Genet & Dev Biol, Div Human Genet, Storrs, CT 06269 USA
[2] Connecticut Childrens Med Ctr, Ctr Mot Anal, Hartford, CT 06106 USA
[3] Connecticut Childrens Med Ctr, Div Occupat Therapy, Hartford, CT 06106 USA
[4] Univ Connecticut, Ctr Hlth, AJ Pappanikou Ctr Dev Disabil, Storrs, CT 06269 USA
[5] Univ Connecticut, Ctr Hlth, Dept Pediat, Storrs, CT 06269 USA
关键词
motion analysis; Niemann-Pick disease type C; gait disorders; pediatric neurology; miglustat;
D O I
10.1002/mds.21779
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
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 des it 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. (c) 2007 Movement Disorder Society.
引用
收藏
页码:124 / 128
页数:5
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