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Citation
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HERO ID
7052486
Reference Type
Journal Article
Title
The Limb-Girdle Muscular Dystrophies: Is Treatment on the Horizon?
Author(s)
Chu, ML; Moran, E; ,
Year
2018
Is Peer Reviewed?
1
Journal
Neurotherapeutics
ISSN:
1933-7213
EISSN:
1878-7479
Publisher
SPRINGER
Location
NEW YORK
Page Numbers
849-862
PMID
30019308
DOI
10.1007/s13311-018-0648-x
Web of Science Id
WOS:000452286500003
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 type of LGMD, highlighting their distinguishing features, then focus on research efforts that have been published in the literature for the past few years, many of which are still in the preclinical trial stage.
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