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Romanian Journal of Internal Medicine

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

Alexandra Bastian
  • Corresponding author
  • “Colentina” University Hospital, Department of Pathology, Bucharest, Romania
  • University of Medicine and Pharmacy, Department of Pathology, Bucharest, Romania
  • Email:
/ V. Mageriu
  • “Colentina” University Hospital, Department of Pathology, Bucharest, Romania
/ Gianina Micu
  • “Colentina” University Hospital, Department of Pathology, Bucharest, Romania
/ Emilia Manole
  • “Victor Babeş” National Institute of Pathology, Molecular Biology Laboratory, Bucharest, Romania
Published Online: 2015-10-07 | DOI: https://doi.org/10.1515/rjim-2015-0002

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.

Abstract

Distrofiile musculare forma centurilor reprezintă un grup de afecţiuni extrem de heterogen şi în rapidă expansiune, caracterizate prin deficit muscular pelvin, scapular şi la nivelul trunchiului, fără afectarea musculaturii faciale şi distale în majoritatea subtipurilor de boală, cu debut în copilărie sau în perioada adultă la ambele sexe şi cu severitate clinică extrem de variabilă de la fenotipuri uşoare la forme severe, unele asociate cu afectare cardio-pulmonară şi extrascheletală şi niveluri foarte crescute ale creatin-kinazei serice. În ultimii ani s-au înregistrat progrese uriaşe ale diferitelor metode de identificare şi au fost descoperite noi entităţi distincte. Totuşi, încă nu este suficient de clar de ce există o afectare selectivă a unor grupe musculare cu lipsa de afectare a altora în diferitele subtipuri de boală şi de ce tablouri clinice similare se asociază cu gene şi mutaţii diferite, în timp ce aceleaşi gene şi chiar aceleaşi mutaţii se pot asocia cu fenotipuri foarte variate. În acest review sintetizăm principalele aspecte de diagnostic pozitiv şi diferenţial al distrofiilor musculare forma centurilor.

Keywords: Limb-girdle muscular dystrophies; calpain 3; dysferlin; anoctamin 5; γ; α; β and δ sarcoglycans.

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About the article

Received: 2015-02-10

Published Online: 2015-10-07

Published in Print: 2015-03-01



Citation Information: Romanian Journal Of Internal Medicine, ISSN (Online) 1220-4749, DOI: https://doi.org/10.1515/rjim-2015-0002. Export Citation

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