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Background <p>Limb Girdle Muscular Dystrophy is defined as a group of progressive autosomal recessive (85%, 28 genes) and autosomal dominant (15%, 5 genes) muscular dystrophies described in at least two unrelated families, affecting individuals that achieve independent walking, with predominant proximal muscles weakness at presentation, elevated serum creatine kinase activity, dystrophic changes on muscle biopsy, and degeneration on muscle imaging over the course of the disease.</p> Main body <p>The aims of this review are: (1) to show the recent Limb Girdle Muscular Dystrophy (LGMD) genetic classification illustrated with clinical and physiopathological characteristics, and cellular localization of the main gene products; (2) to present muscle radiophenotypes with an algorithm for differential diagnosis; (3) to show the role of muscle biopsy for phenotypic characterization, and pathogenicity confirmation in the era of surgical-molecular pathology.</p> Conclusion <p>Pathologists may be aware of clinical, neurophysiological, laboratorial, imaging, molecular, and muscle biopsy modalities to provide a precise phenotypic-genotypic diagnosis for adequate rehabilitation care, and genetic counselling.</p>

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Essential neuromuscular advice for pathologists: Limb Girdle Muscular Dystrophy (second of two parts)

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2025年2月20日

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  • Ana Cotta,
  • Elmano Carvalho,
  • Antonio Lopes da-Cunha-Júnior,
  • Julio Salgado Antunes,
  • Francineide Sadala de Souza,
  • Heveline Becker de Moura,
  • Andreia Portilho de Brito Pinto,
  • Jaquelin Valicek,
  • Monica Machado Navarro,
  • Frederico Godinho,
  • Eni Braga da Silveira,
  • Maria Isabel Lima,
  • Bruno Arrivabene Cordeiro,
  • Alexandre Faleiros Cauhi,
  • Miriam Melo Menezes,
  • Simone Vilela Nunes-Neves,
  • Antonio Pedro Vargas,
  • Rafael Xavier da-Silva-Neto,
  • Renata Lobo Giron,
  • Cynthia Costa-e-Silva,
  • Reinaldo Issao Takata,
  • Julia Filardi Paim

摘要

Background

Limb Girdle Muscular Dystrophy is defined as a group of progressive autosomal recessive (85%, 28 genes) and autosomal dominant (15%, 5 genes) muscular dystrophies described in at least two unrelated families, affecting individuals that achieve independent walking, with predominant proximal muscles weakness at presentation, elevated serum creatine kinase activity, dystrophic changes on muscle biopsy, and degeneration on muscle imaging over the course of the disease.

Main body

The aims of this review are: (1) to show the recent Limb Girdle Muscular Dystrophy (LGMD) genetic classification illustrated with clinical and physiopathological characteristics, and cellular localization of the main gene products; (2) to present muscle radiophenotypes with an algorithm for differential diagnosis; (3) to show the role of muscle biopsy for phenotypic characterization, and pathogenicity confirmation in the era of surgical-molecular pathology.

Conclusion

Pathologists may be aware of clinical, neurophysiological, laboratorial, imaging, molecular, and muscle biopsy modalities to provide a precise phenotypic-genotypic diagnosis for adequate rehabilitation care, and genetic counselling.