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A scale to monitor progression and treatment of mitochondrial disease in children

Lookup NU author(s): Dr Andrew Schaefer, Dr Joanna Elson, Emeritus Professor Doug Turnbull, Professor Bobby McFarlandORCiD

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Abstract

Mitochondrial diseases affect all age groups, but those with childhood onset often seem to experience the greatest burden of disability. In some paediatric patients this can be explained by a cumulative disability acquired over many years. In others, additional factors, including the nature and severity of the molecular defect, must be considered. To date, no large-scale studies have attempted to document the natural history of paediatric mitochondrial disease. This is in part at least, because no assessment tool has been available to plot the temporal course of a disease with such a diverse clinical spectrum. This paper describes how a practical and semi-quantitative rating scale has been devised for children with mitochondrial disease, the Newcastle paediatric mitochondrial disease scale (NPMDS). The scale is multi-dimensional and reproducible, offering a tool through which mitochondrial disease progression can be objectively monitored. We anticipate that use of this tool will facilitate both longitudinal natural history studies and the assessment of future therapeutic interventions. © 2006 Elsevier B.V. All rights reserved.

Publication metadata

Author(s): Phoenix C, Schaefer AM, Elson JL, Morava E, Bugiani M, Uziel G, Smeitink JA, Turnbull DM, McFarland R

Publication type: Article

Publication status: Published

Journal: Neuromuscular Disorders

Year: 2006

Volume: 16

Issue: 12

Pages: 814-820

ISSN (print): 0960-8966

ISSN (electronic): 1873-2364

Publisher: Elsevier

URL: http://dx.doi.org/10.1016/j.nmd.2006.08.006

DOI: 10.1016/j.nmd.2006.08.006

PubMed id: 17123819

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