Results 161 to 170 of about 5,189 (209)
Brazilian version of the ACTIVLIM: translation, cultural adaptation, and validation for neuromuscular disorders. [PDF]
Arq NeuropsiquiatrSantos ACC +5 more
europepmc +1 more source
Dystrophinopathies and Limb-Girdle Muscular Dystrophies
Neuropediatrics, 2017 AbstractMuscular 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.
Anna Sarkozy +2 more
exaly +4 more sources
Limb Girdle Muscular Dystrophies [PDF]
Neurologic Clinics, 2020 The limb girdle muscular dystrophies (LGMDs) are genetic muscle diseases with primary skeletal muscle involvement in persons with the ability to walk independently at some point in the disease course. They usually have increased creatine kinase levels along with patterns of fatty and fibrous deposition on muscle imaging and/or dystrophic features on ...
Jacob, Bockhorst, Matthew, Wicklund
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The Limb-Girdle Muscular Dystrophies
Neurologic Clinics, 2014A collection of more than 30 genetic muscle diseases that share certain key features, limb-girdle muscular dystrophies are characterized by progressive weakness and muscle atrophy of the hips, shoulders, and proximal extremity muscles with postnatal onset. This article discusses clinical, laboratory, and histologic features of the 6 most prevalent limb-
John T Kissel
exaly +3 more sources
The Limb-Girdle Muscular Dystrophies
Continuum, 2022The limb-girdle muscular dystrophies (LGMDs) are a group of inherited muscle disorders with a common feature of limb-girdle pattern of weakness, caused by over 29 individual genes. This article describes the classification scheme, common subtypes, and the management of individuals with LGMD.Advances in genetic testing and next-generation sequencing ...
Nicholas E, Johnson, Jeffrey M, Statland
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EFNS guideline on diagnosis and management of limb girdle muscular dystrophies
European Journal of Neurology, 2007 The limb girdle muscular dystrophies (LGMD) are termed as such as they share the characteristic feature of muscle weakness predominantly affecting the shoulder and pelvic girdles; their classification has been completely revised in recent years because ...
Marianne De Visser, Hanns Lochmüller
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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
openaire +3 more sources