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Recent advances in paediatric muscular dystrophies

Lookup NU author(s): Emerita Professor Katherine Bushby

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Abstract

The inherited muscle diseases of childhood remain a significant cause of disability. Enormous progress in determining the underlying genetic causes of these disorders has led to much greater precision in diagnosis and better guidance about prognosis for individual conditions. This has been particularly striking in recent years in the elucidation of the genetic basis for muscular dystrophies presenting in the first year of life (the congenital muscular dystrophies) or later in childhood (Duchenne and Becker muscular dystrophies, Emery-Dreifuss muscular dystrophy and the limb-girdle muscular dystrophies). Improved understanding of pathogenesis and disease progression means that management interventions can be more logically planned, allowing a considerable impact on well-being and longevity. Support for respiratory impairment and cardiac and nutritional problems can be logically planned and applied in a disease-specific manner. The potential of gene-based therapies for these conditions, or specific pharmacological modification of the phenotype, remains a major goal of basic research. © 2004 Elsevier Ltd. All rights reserved.

Publication metadata

Author(s): Bushby K

Publication type: Review

Publication status: Published

Journal: Current Paediatrics

Year: 2004

Volume: 14

Issue: 3

Pages: 214-222

ISSN (print): 0957-5839

ISSN (electronic): 1878-206X

URL: http://dx.doi.org/10.1016/j.cupe.2004.04.015

DOI: 10.1016/j.cupe.2004.04.015

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