<abstract xmlns="http://www.w3.org/1999/xhtml"><p> Limb-girdle muscular dystrophies (LGMD) are an extremely heterogeneous and rapidly expanding group of diseases characterized by progressive weakness of pelvic, scapular and trunk muscles with sparing of facial and distal musculature in most of the subtypes, onset in childhood or in adults of both sexes, very variable clinical severity ranging from mild to severe phenotypes, some associated with cardio-pulmonary and extraskeletal impairment and high serum creatine-kinase (CK) levels. In the past years, huge advances have been recorded in the various identification methods and new distinct entities were discovered. However, it is not yet clear why some muscle groups are affected and others spared in a specific subtype of LGMD, why similar clinical pictures are associated with different genes and mutations, while the same gene or mutation may present with very various clinical phenotypes [1]. In this review we summarize the main aspects of positive and differential diagnosis in LGMD.</p></abstract>

Limb-girdle muscular dystrophies (LGMD) are an extremely heterogeneous and rapidly expanding group of diseases characterized by progressive weakness of pelvic, scapular and trunk muscles with sparing of facial and distal musculature in most of the subtypes, onset in childhood or in adults of both sexes, very variable clinical severity ranging from mild to severe phenotypes, some associated with cardio-pulmonary and extraskeletal impairment and high serum creatine-kinase (CK) levels. In the past years, huge advances have been recorded in the various identification methods and new distinct entities were discovered. However, it is not yet clear why some muscle groups are affected and others spared in a specific subtype of LGMD, why similar clinical pictures are associated with different genes and mutations, while the same gene or mutation may present with very various clinical phenotypes [1]. In this review we summarize the main aspects of positive and differential diagnosis in LGMD.

The Growing Family of Limb-Girdle Muscular Dystrophies: Old and Newly Identified Members

“Colentina” University Hospital, Department of Pathology, Bucharest, Romania

University of Medicine and Pharmacy, Department of Pathology, Bucharest, Romania

“Victor Babeş” National Institute of Pathology, Molecular Biology Laboratory, Bucharest, Romania

Romanian Journal of Internal Medicine

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.

Limb-girdle muscular dystrophies (LGMD) are an extremely heterogeneous and rapidly expanding group of diseases characterized by progressive weakness of pelvic,...

The Growing Family of Limb-Girdle Muscular Dystrophies: Old and Newly Identified Members

Publié en ligne: 07 oct. 2015

Pages: 13 - 26

Reçu: 10 févr. 2015

DOI: https://doi.org/10.1515/rjim-2015-0002

Mots clés
Limb-girdle muscular dystrophies, calpain 3, dysferlin, anoctamin 5, γ, α, β and δ sarcoglycans.

© 2015

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.

The Growing Family of Limb-Girdle Muscular Dystrophies: Old and Newly Identified Members

Publié en ligne: 07 oct. 2015

Pages: 13 - 26

Reçu: 10 févr. 2015

DOI: https://doi.org/10.1515/rjim-2015-0002

Mots clésLimb-girdle muscular dystrophies, calpain 3, dysferlin, anoctamin 5, γ, α, β and δ sarcoglycans.

© 2015

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.

Mots clés
Limb-girdle muscular dystrophies, calpain 3, dysferlin, anoctamin 5, γ, α, β and δ sarcoglycans.