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The Role of Muscle Biopsy in Diagnostic Process of Infant Hypotonia: From Clinical Classification to the Genetic Outcome

The role of muscle biopsy in the diagnostic workup of floppy infants is controversial. Muscle sampling is invasive, and often, results are not specific. The rapid expansion of genetic approach has made the muscle histopathology analysis less crucial. This study aims to assess the role and efficacy o...

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Autores principales: Veneruso, Marco, Fiorillo, Chiara, Broda, Paolo, Baratto, Serena, Traverso, Monica, Donati, Alice, Savasta, Salvatore, Falsaperla, Raffaele, Mancardi, Maria Margherita, Pedemonte, Marina, Panicucci, Chiara, Piatelli, Gianluca, Pacetti, Mattia, Moscatelli, Andrea, Ramenghi, Luca Antonio, Nobili, Lino, Minetti, Carlo, Bruno, Claudio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8523832/
https://www.ncbi.nlm.nih.gov/pubmed/34675869
http://dx.doi.org/10.3389/fneur.2021.735488
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author Veneruso, Marco
Fiorillo, Chiara
Broda, Paolo
Baratto, Serena
Traverso, Monica
Donati, Alice
Savasta, Salvatore
Falsaperla, Raffaele
Mancardi, Maria Margherita
Pedemonte, Marina
Panicucci, Chiara
Piatelli, Gianluca
Pacetti, Mattia
Moscatelli, Andrea
Ramenghi, Luca Antonio
Nobili, Lino
Minetti, Carlo
Bruno, Claudio
author_facet Veneruso, Marco
Fiorillo, Chiara
Broda, Paolo
Baratto, Serena
Traverso, Monica
Donati, Alice
Savasta, Salvatore
Falsaperla, Raffaele
Mancardi, Maria Margherita
Pedemonte, Marina
Panicucci, Chiara
Piatelli, Gianluca
Pacetti, Mattia
Moscatelli, Andrea
Ramenghi, Luca Antonio
Nobili, Lino
Minetti, Carlo
Bruno, Claudio
author_sort Veneruso, Marco
collection PubMed
description The role of muscle biopsy in the diagnostic workup of floppy infants is controversial. Muscle sampling is invasive, and often, results are not specific. The rapid expansion of genetic approach has made the muscle histopathology analysis less crucial. This study aims to assess the role and efficacy of muscle histopathology in the diagnostic algorithm of hypotonia in early infancy through a retrospective analysis of 197 infants who underwent muscle biopsy in their first 18 months of life. Data analysis revealed that 92/197 (46.7%) of muscle biopsies were non-specific (80) or normal (12), not allowing a specific diagnosis. In 41/197 (20.8%) cases, biopsy suggested a metabolic or mitochondrial myopathy, while in 23/197 cases (11.7%), we found evidence of muscular dystrophy. In 19/197 cases (9.7%), histopathology characteristics of a congenital myopathy were reported. In 22/197 cases (11.7%), the histopathological study indicated presence of a neurogenic damage. Overall, 46 diagnoses were then achieved by oriented genetic tests. Muscle biopsy results were consistent with genetic results in 90% of cases. Diagnostic algorithms for the diagnosis of a floppy infant are largely missing. Muscle biopsy alone can lead to a diagnosis, help the clinician in the choice of a genetic test, or even modify a diagnosis made previously.
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spelling pubmed-85238322021-10-20 The Role of Muscle Biopsy in Diagnostic Process of Infant Hypotonia: From Clinical Classification to the Genetic Outcome Veneruso, Marco Fiorillo, Chiara Broda, Paolo Baratto, Serena Traverso, Monica Donati, Alice Savasta, Salvatore Falsaperla, Raffaele Mancardi, Maria Margherita Pedemonte, Marina Panicucci, Chiara Piatelli, Gianluca Pacetti, Mattia Moscatelli, Andrea Ramenghi, Luca Antonio Nobili, Lino Minetti, Carlo Bruno, Claudio Front Neurol Neurology The role of muscle biopsy in the diagnostic workup of floppy infants is controversial. Muscle sampling is invasive, and often, results are not specific. The rapid expansion of genetic approach has made the muscle histopathology analysis less crucial. This study aims to assess the role and efficacy of muscle histopathology in the diagnostic algorithm of hypotonia in early infancy through a retrospective analysis of 197 infants who underwent muscle biopsy in their first 18 months of life. Data analysis revealed that 92/197 (46.7%) of muscle biopsies were non-specific (80) or normal (12), not allowing a specific diagnosis. In 41/197 (20.8%) cases, biopsy suggested a metabolic or mitochondrial myopathy, while in 23/197 cases (11.7%), we found evidence of muscular dystrophy. In 19/197 cases (9.7%), histopathology characteristics of a congenital myopathy were reported. In 22/197 cases (11.7%), the histopathological study indicated presence of a neurogenic damage. Overall, 46 diagnoses were then achieved by oriented genetic tests. Muscle biopsy results were consistent with genetic results in 90% of cases. Diagnostic algorithms for the diagnosis of a floppy infant are largely missing. Muscle biopsy alone can lead to a diagnosis, help the clinician in the choice of a genetic test, or even modify a diagnosis made previously. Frontiers Media S.A. 2021-10-05 /pmc/articles/PMC8523832/ /pubmed/34675869 http://dx.doi.org/10.3389/fneur.2021.735488 Text en Copyright © 2021 Veneruso, Fiorillo, Broda, Baratto, Traverso, Donati, Savasta, Falsaperla, Mancardi, Pedemonte, Panicucci, Piatelli, Pacetti, Moscatelli, Ramenghi, Nobili, Minetti and Bruno. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Neurology
Veneruso, Marco
Fiorillo, Chiara
Broda, Paolo
Baratto, Serena
Traverso, Monica
Donati, Alice
Savasta, Salvatore
Falsaperla, Raffaele
Mancardi, Maria Margherita
Pedemonte, Marina
Panicucci, Chiara
Piatelli, Gianluca
Pacetti, Mattia
Moscatelli, Andrea
Ramenghi, Luca Antonio
Nobili, Lino
Minetti, Carlo
Bruno, Claudio
The Role of Muscle Biopsy in Diagnostic Process of Infant Hypotonia: From Clinical Classification to the Genetic Outcome
title The Role of Muscle Biopsy in Diagnostic Process of Infant Hypotonia: From Clinical Classification to the Genetic Outcome
title_full The Role of Muscle Biopsy in Diagnostic Process of Infant Hypotonia: From Clinical Classification to the Genetic Outcome
title_fullStr The Role of Muscle Biopsy in Diagnostic Process of Infant Hypotonia: From Clinical Classification to the Genetic Outcome
title_full_unstemmed The Role of Muscle Biopsy in Diagnostic Process of Infant Hypotonia: From Clinical Classification to the Genetic Outcome
title_short The Role of Muscle Biopsy in Diagnostic Process of Infant Hypotonia: From Clinical Classification to the Genetic Outcome
title_sort role of muscle biopsy in diagnostic process of infant hypotonia: from clinical classification to the genetic outcome
topic Neurology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8523832/
https://www.ncbi.nlm.nih.gov/pubmed/34675869
http://dx.doi.org/10.3389/fneur.2021.735488
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