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Limb-girdle muscular dystrophy
Current Neurology and Neuroscience Reports, 2003The limb-girdle muscular dystrophies (LGMDs) are a group of muscular dystrophies that share a similar clinical phenotype. Despite this clinical homogeneity, at least 15 different genetic forms of LGMD are now known. Some of these share pathogenetic mechanisms with other forms of muscular dystrophy, such as the sarcoglycanopathies (LGMD 2C-F) and the ...
Katherine D, Mathews, Steven A, Moore
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Limb–girdle muscular dystrophies
Current Opinion in Neurology, 2008The aim of this review is to provide an up-to-date analysis of current knowledge about limb-girdle muscular dystrophies (LGMDs).Over the last few years, new and interesting studies have been published on LGMD. New LGMD genes have been discovered and the clinical and genetic heterogeneity in this group of muscular dystrophies has been further enlarged ...
Guglieri M +3 more
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Limb-Girdle Muscular Dystrophies
ContinuumThis article reviews the current classification system, common subtypes, differential diagnosis, diagnostic algorithms, current management strategies, and evolving therapeutic areas for limb-girdle muscular dystrophies (LGMDs).There are currently five dominantly inherited LGMDs (LGMD-D1 to D5) and 29 recessively inherited LGMDs (LGMD-R1 to R29 ...
Satish V. Khadilkar +2 more
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Dystrophinopathies and Limb-Girdle Muscular Dystrophies
Neuropediatrics, 2017AbstractMuscular dystrophies are a heterogeneous group of inherited diseases. The natural history of these disorders along with their management have changed mainly due to a better understanding of their pathophysiology, the evolution of standards of care, and new treatment options.
Joana, Domingos +3 more
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The limb-girdle muscular dystrophies
European Journal of Paediatric Neurology, 1999Abstract Literature on any disease is merely a snapshot of the level of understanding of a condition at that time. Since the introduction of the term in the mid 1950s someone reviewing the literature on the limb-girdle muscular dystrophies (LGMD) would recognize immediately that the field has often been confused and controversial over ...
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The Limb-Girdle Muscular Dystrophies
Continuum, 2019As a group, the limb-girdle muscular dystrophies (LGMDs) are the fourth most prevalent genetic muscle disease, yet they are still not well known or understood. This article defines and describes LGMDs, delineates a diagnostic strategy, and discusses treatment of the LGMDs.In 2018, the definition of the LGMDs was further refined, and a new nomenclature ...
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The Limb-Girdle Muscular Dystrophies and the Dystrophinopathies
Continuum, 2016The classic approach to identifying and accurately diagnosing limb-girdle muscular dystrophies (LGMDs) relied heavily on phenotypic characterization and ancillary studies including muscle biopsy. Because of rapid advances in genetic sequencing methodologies, several additional LGMDs have been molecularly characterized, and the diagnostic approach to ...
Stanley Jones P, Iyadurai +1 more
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The Childhood Limb-Girdle Muscular Dystrophies
Seminars in Pediatric Neurology, 2006The heterogeneous childhood limb-girdle muscular dystrophies have originally been defined as a group of autosomal recessive and dominant diseases with progressive weakness and wasting of shoulder and pelvic-girdle muscles. Over the last 12 years, the underlying genetic defects for many of the diseases have been identified and insight into ...
Volker, Straub, Kate, Bushby
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Limb-girdle muscular dystrophy 2A
2011Limb-girdle muscular dystrophy type 2A (LGMD2A) is caused by mutations in the gene CAPN3 located in the chromosome region 15q15.1-q21.1. To date more than 300 mutations have been described. This gene encodes for a 94-kDa nonlysosomal calcium-dependent cysteine protease and its function in skeletal muscle is not fully understood. It seems that calpain-3
Eduard, Gallardo +2 more
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Limb-girdle Muscular Dystrophy in Childhood
Pediatric Annals, 2005LGMD refers to a class of muscular dystrophies with onset in the proximal muscles. They are genetically heterogeneous, with both autosomal recessive and dominant forms. The autosomal recessive forms are more common and in general follow a more severe course compared to the dominant forms.
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