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. 2013 May;6(3):147-60.
doi: 10.1177/1756285612472386.

Recent developments in the treatment of Duchenne muscular dystrophy and spinal muscular atrophy

Wendy K M Liew  1 , Peter B Kang
Affiliations

Recent developments in the treatment of Duchenne muscular dystrophy and spinal muscular atrophy

Wendy K M Liew et al. Ther Adv Neurol Disord. 2013 May.

Abstract

Pediatric neuromuscular disorders comprise a large variety of disorders that can be classified based on their neuroanatomical localization, patterns of weakness, and laboratory test results. Over the last decade, the field of translational research has been active with many ongoing clinical trials. This is particularly so in two common pediatric neuromuscular disorders: Duchenne muscular dystrophy and spinal muscular atrophy. Although no definitive therapy has yet been found, numerous active areas of research raise the potential for novel therapies in these two disorders, offering hope for improved quality of life and life expectancy for affected individuals.

Keywords: Duchenne muscular dystrophy; spinal muscular atrophy; therapy.

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Conflict of interest statement

Conflict of interest statement: WKML has received funding for travel from ISIS Pharmaceuticals. PBK has received travel funding, research support, and an honorarium from ISIS Pharmaceuticals, as well as travel funding from PTC Therapeutics.

References

    1. Aartsma-Rus A., Fokkema I., Verschuuren J., Ginjaar I., van Deutekom J., van Ommen G., et al. (2009) Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations. Human Mutation 30: 293-299 - PubMed
    1. Andreassi C., Angelozzi C., Tiziano F., Vitali T., De Vincenzi E., Boninsegna A., et al. (2004) Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy. Eur J Human Genet 12: 59-65 - PubMed
    1. Angelozzi C., Borgo F., Tiziano F., Martella A., Neri G., Brahe C. (2008) Salbutamol increases SMN mRNA and protein levels in spinal muscular atrophy cells. J Med Genet 45: 29-31 - PubMed
    1. Auld D., Thorne N., Maguire W., Inglese J. (2009) Mechanism of PTC124 activity in cell-based luciferase assays of nonsense codon suppression. Proc Natl Acad Sci U S A 106: 3585-3590 - PMC - PubMed
    1. Barton-Davis E., Cordier L., Shoturma D., Leland S., Sweeney H. (1999) Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice. J Clin Invest 104: 375-381 - PMC - PubMed

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