The Limb-Girdle Muscular Dystrophies: Is Treatment on the Horizon?

Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics
Mary Lynn Chu, Ellen Moran

Abstract

There has been an ever-expanding list of the Limb-Girdle Muscular Dystrophies (LGMD). There are currently 8 subtypes of autosomal dominant (AD) and 26 subtypes of autosomal recessive (AR) LGMD. Despite continued research efforts to conquer this group of genetic neuromuscular disease, patients continue to be treated symptomatically with the aim of prevention or addressing complications. Mouse models have been helpful in clarifying disease pathogenesis as well as strategizing pathways for treatment. Discoveries in translational research as well as molecular therapeutic approaches have kept clinicians optimistic that more promising clinical trials will lead the way to finding the cure for these devastating disorders. It is well known that the challenge for these rare diseases is the ability to assemble adequate numbers of patients for a clinically meaningful trial, but current efforts in developing patient registries have been encouraging. Natural history studies will be essential in establishing and interpreting the appropriate outcome measures for clinical trials. Nevertheless, animal studies continue to be key in providing proof of concept that will be necessary in moving research along. This review will briefly discuss each ty...Continue Reading

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Citations

Nov 18, 2018·Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics·Andrew L MammenDoris G Leung
Jul 31, 2020·Skeletal Muscle·Elisabeth R BartonPeter B Kang
Jun 11, 2021·The Protein Journal·Dimitra G GeorganopoulouChih-Kao Hu
Jul 3, 2021·International Journal of Molecular Sciences·Christine Péladeau, Jagdeep K Sandhu
Jun 22, 2021·Frontiers in Pharmacology·Leonela LuceFlorencia Giliberto

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Methods Mentioned

BETA
biopsy
exome sequencing
biopsies
transgenic
transfection
glycosylation

Software Mentioned

Mini
Gamma

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