Open Access
Open access
Springer Nature
Surgical and Experimental Pathology
,  volume 8 ,  issue 1 ,  publication number 2

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

Ana Cristina Cotta 1
, 
Elmano Carvalho 2
, 
Antonio Lopes da-Cunha-Júnior 3
, 
Julio Salgado Antunes 4
, 
Francineide Sadala De Souza 4
, 
Heveline Becker de Moura 4
, 
Andreia Portilho de Brito Pinto 4
, 
Jaquelin Valicek 2
, 
Monica Machado Navarro 5
, 
Frederico Godinho 5
, 
Eni Braga Da Silveira 6
, 
Maria Isabel Lima 6
, 
Bruno Arrivabene Cordeiro 6
, 
Alexandre Faleiros Cauhi 7
, 
Miriam Melo Menezes 8
, 
Simone Vilela Nunes-Neves 8
, 
Antonio Pedro Vargas 8
, 
Rafael Xavier da-Silva-Neto 8
, 
Renata Lobo Giron 4
, 
Cynthia Costa-e-Silva 9
, 
Reinaldo Issao Takata 9
, 
Julia Filardi Paim 1
1
 
Department of Pathology, The SARAH Network of Rehabilitation Hospitals, Belo Horizonte, Brazil | 
2
 
Department of Neurophysiology, The SARAH Network of Rehabilitation Hospitals, Belo Horizonte, Brazil | 
3
 
Department of Radiology, The SARAH Network of Rehabilitation Hospitals, Belo Horizonte, Brazil | 
4
 
Department of Pathology, The SARAH Network of Rehabilitation Hospitals, Brasília, Brazil | 
5
 
Department of Pediatrics, The SARAH Network of Rehabilitation Hospitals, Belo Horizonte, Brazil | 
6
 
Department of Electron Microscopy, The SARAH Network of Rehabilitation Hospitals, Brasília, Brazil | 
7
 
Department of Surgery, The SARAH Network of Rehabilitation Hospitals, Belo Horizonte, Brazil | 
8
 
Department of Neurology, The SARAH Network of Rehabilitation Hospitals, Belo Horizonte, Brazil | 
9
 
Molecular Biology Department, The SARAH Network of Rehabilitation Hospitals, Brasília, Brazil | 
Publication type: Journal Article
Publication date: 2025-02-20
Springer Nature
SJR: —
CiteScore: —
Impact factor: —
ISSN: 25208454
Abstract
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.

Found 

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Cotta A. C. et al. Essential neuromuscular advice for pathologists: Limb Girdle Muscular Dystrophy (second of two parts) // Surgical and Experimental Pathology. 2025. Vol. 8. No. 1. 2
GOST all authors (up to 50) Copy
Cotta A. C., Carvalho E., da-Cunha-Júnior A. L., Antunes J. S., De Souza F. S., de Moura H. B., de Brito Pinto A. P., Valicek J., Navarro M. M., Godinho F., Da Silveira E. B., Lima M. I., Cordeiro B. A., Cauhi A. F., Menezes M. M., Nunes-Neves S. V., Vargas A. P., da-Silva-Neto R. X., Giron R. L., Costa-e-Silva C., Takata R. I., Paim J. F. Essential neuromuscular advice for pathologists: Limb Girdle Muscular Dystrophy (second of two parts) // Surgical and Experimental Pathology. 2025. Vol. 8. No. 1. 2
RIS |
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RIS Copy
TY - JOUR
DO - 10.1186/s42047-025-00176-6
UR - https://surgexppathol.biomedcentral.com/articles/10.1186/s42047-025-00176-6
TI - Essential neuromuscular advice for pathologists: Limb Girdle Muscular Dystrophy (second of two parts)
T2 - Surgical and Experimental Pathology
AU - Cotta, Ana Cristina
AU - Carvalho, Elmano
AU - da-Cunha-Júnior, Antonio Lopes
AU - Antunes, Julio Salgado
AU - De Souza, Francineide Sadala
AU - de Moura, Heveline Becker
AU - de Brito Pinto, Andreia Portilho
AU - Valicek, Jaquelin
AU - Navarro, Monica Machado
AU - Godinho, Frederico
AU - Da Silveira, Eni Braga
AU - Lima, Maria Isabel
AU - Cordeiro, Bruno Arrivabene
AU - Cauhi, Alexandre Faleiros
AU - Menezes, Miriam Melo
AU - Nunes-Neves, Simone Vilela
AU - Vargas, Antonio Pedro
AU - da-Silva-Neto, Rafael Xavier
AU - Giron, Renata Lobo
AU - Costa-e-Silva, Cynthia
AU - Takata, Reinaldo Issao
AU - Paim, Julia Filardi
PY - 2025
DA - 2025/02/20
PB - Springer Nature
IS - 1
VL - 8
SN - 2520-8454
ER -
BibTex
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@article{2025_Cotta,
author = {Ana Cristina Cotta and Elmano Carvalho and Antonio Lopes da-Cunha-Júnior and Julio Salgado Antunes and Francineide Sadala De Souza and Heveline Becker de Moura and Andreia Portilho de Brito Pinto and Jaquelin Valicek and Monica Machado Navarro and Frederico Godinho and Eni Braga Da Silveira and Maria Isabel Lima and Bruno Arrivabene Cordeiro and Alexandre Faleiros Cauhi and Miriam Melo Menezes and Simone Vilela Nunes-Neves and Antonio Pedro Vargas and Rafael Xavier da-Silva-Neto and Renata Lobo Giron and Cynthia Costa-e-Silva and Reinaldo Issao Takata and Julia Filardi Paim},
title = {Essential neuromuscular advice for pathologists: Limb Girdle Muscular Dystrophy (second of two parts)},
journal = {Surgical and Experimental Pathology},
year = {2025},
volume = {8},
publisher = {Springer Nature},
month = {feb},
url = {https://surgexppathol.biomedcentral.com/articles/10.1186/s42047-025-00176-6},
number = {1},
pages = {2},
doi = {10.1186/s42047-025-00176-6}
}