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Congenital muscular dystrophy: from muscle to brain

Congenital muscular dystrophies (CMDs) are a wide group of muscular disorders that manifest with very early onset of muscular weakness, sometime associated to severe brain involvement. The histologic pattern of muscle anomalies is typical of dystrophic lesions but quite variable depending on the dif...

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Autores principales: Falsaperla, Raffaele, Praticò, Andrea D., Ruggieri, Martino, Parano, Enrico, Rizzo, Renata, Corsello, Giovanni, Vitaliti, Giovanna, Pavone, Piero
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5006267/
https://www.ncbi.nlm.nih.gov/pubmed/27576556
http://dx.doi.org/10.1186/s13052-016-0289-9
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author Falsaperla, Raffaele
Praticò, Andrea D.
Ruggieri, Martino
Parano, Enrico
Rizzo, Renata
Corsello, Giovanni
Vitaliti, Giovanna
Pavone, Piero
author_facet Falsaperla, Raffaele
Praticò, Andrea D.
Ruggieri, Martino
Parano, Enrico
Rizzo, Renata
Corsello, Giovanni
Vitaliti, Giovanna
Pavone, Piero
author_sort Falsaperla, Raffaele
collection PubMed
description Congenital muscular dystrophies (CMDs) are a wide group of muscular disorders that manifest with very early onset of muscular weakness, sometime associated to severe brain involvement. The histologic pattern of muscle anomalies is typical of dystrophic lesions but quite variable depending on the different stages and on the severity of the disorder. Recent classification of CMDs have been reported most of which based on the combination of clinical, biochemical, molecular and genetic findings, but genotype/phenotype correlation are in constant progression due to more diffuse utilization of the molecular analysis. In this article, the Authors report on CMDs belonging to the group of dystroglycanopathies and in particular on the most severe forms represented by the Fukuyama CMD, Muscle-Eye-Brain disease and Walker Walburg syndrome. Clinical diagnosis of infantile hypotonia is particularly difficult considering the different etiologic factors causing the lesions, the difficulty in localizing the involved CNS area (central vs. peripheral) and the limited role of the diagnostic procedures at this early age. The diagnostic evaluation is not easy mainly in differentiating the various types of CMDs, and represents a challenge for the neonatologists and pediatricians. Suggestions are reported on the way to reach a correct diagnosis with the appropriate use of the diagnostic means.
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spelling pubmed-50062672016-09-01 Congenital muscular dystrophy: from muscle to brain Falsaperla, Raffaele Praticò, Andrea D. Ruggieri, Martino Parano, Enrico Rizzo, Renata Corsello, Giovanni Vitaliti, Giovanna Pavone, Piero Ital J Pediatr Review Congenital muscular dystrophies (CMDs) are a wide group of muscular disorders that manifest with very early onset of muscular weakness, sometime associated to severe brain involvement. The histologic pattern of muscle anomalies is typical of dystrophic lesions but quite variable depending on the different stages and on the severity of the disorder. Recent classification of CMDs have been reported most of which based on the combination of clinical, biochemical, molecular and genetic findings, but genotype/phenotype correlation are in constant progression due to more diffuse utilization of the molecular analysis. In this article, the Authors report on CMDs belonging to the group of dystroglycanopathies and in particular on the most severe forms represented by the Fukuyama CMD, Muscle-Eye-Brain disease and Walker Walburg syndrome. Clinical diagnosis of infantile hypotonia is particularly difficult considering the different etiologic factors causing the lesions, the difficulty in localizing the involved CNS area (central vs. peripheral) and the limited role of the diagnostic procedures at this early age. The diagnostic evaluation is not easy mainly in differentiating the various types of CMDs, and represents a challenge for the neonatologists and pediatricians. Suggestions are reported on the way to reach a correct diagnosis with the appropriate use of the diagnostic means. BioMed Central 2016-08-31 /pmc/articles/PMC5006267/ /pubmed/27576556 http://dx.doi.org/10.1186/s13052-016-0289-9 Text en © The Author(s). 2016 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Review
Falsaperla, Raffaele
Praticò, Andrea D.
Ruggieri, Martino
Parano, Enrico
Rizzo, Renata
Corsello, Giovanni
Vitaliti, Giovanna
Pavone, Piero
Congenital muscular dystrophy: from muscle to brain
title Congenital muscular dystrophy: from muscle to brain
title_full Congenital muscular dystrophy: from muscle to brain
title_fullStr Congenital muscular dystrophy: from muscle to brain
title_full_unstemmed Congenital muscular dystrophy: from muscle to brain
title_short Congenital muscular dystrophy: from muscle to brain
title_sort congenital muscular dystrophy: from muscle to brain
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5006267/
https://www.ncbi.nlm.nih.gov/pubmed/27576556
http://dx.doi.org/10.1186/s13052-016-0289-9
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