Cargando…
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...
Autores principales: | , , , , , , , , , , , , , , , , , |
---|---|
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 |
_version_ | 1784585377091158016 |
---|---|
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. |
format | Online Article Text |
id | pubmed-8523832 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT venerusomarco theroleofmusclebiopsyindiagnosticprocessofinfanthypotoniafromclinicalclassificationtothegeneticoutcome AT fiorillochiara theroleofmusclebiopsyindiagnosticprocessofinfanthypotoniafromclinicalclassificationtothegeneticoutcome AT brodapaolo theroleofmusclebiopsyindiagnosticprocessofinfanthypotoniafromclinicalclassificationtothegeneticoutcome AT barattoserena theroleofmusclebiopsyindiagnosticprocessofinfanthypotoniafromclinicalclassificationtothegeneticoutcome AT traversomonica theroleofmusclebiopsyindiagnosticprocessofinfanthypotoniafromclinicalclassificationtothegeneticoutcome AT donatialice theroleofmusclebiopsyindiagnosticprocessofinfanthypotoniafromclinicalclassificationtothegeneticoutcome AT savastasalvatore theroleofmusclebiopsyindiagnosticprocessofinfanthypotoniafromclinicalclassificationtothegeneticoutcome AT falsaperlaraffaele theroleofmusclebiopsyindiagnosticprocessofinfanthypotoniafromclinicalclassificationtothegeneticoutcome AT mancardimariamargherita theroleofmusclebiopsyindiagnosticprocessofinfanthypotoniafromclinicalclassificationtothegeneticoutcome AT pedemontemarina theroleofmusclebiopsyindiagnosticprocessofinfanthypotoniafromclinicalclassificationtothegeneticoutcome AT panicuccichiara theroleofmusclebiopsyindiagnosticprocessofinfanthypotoniafromclinicalclassificationtothegeneticoutcome AT piatelligianluca theroleofmusclebiopsyindiagnosticprocessofinfanthypotoniafromclinicalclassificationtothegeneticoutcome AT pacettimattia theroleofmusclebiopsyindiagnosticprocessofinfanthypotoniafromclinicalclassificationtothegeneticoutcome AT moscatelliandrea theroleofmusclebiopsyindiagnosticprocessofinfanthypotoniafromclinicalclassificationtothegeneticoutcome AT ramenghilucaantonio theroleofmusclebiopsyindiagnosticprocessofinfanthypotoniafromclinicalclassificationtothegeneticoutcome AT nobililino theroleofmusclebiopsyindiagnosticprocessofinfanthypotoniafromclinicalclassificationtothegeneticoutcome AT minetticarlo theroleofmusclebiopsyindiagnosticprocessofinfanthypotoniafromclinicalclassificationtothegeneticoutcome AT brunoclaudio theroleofmusclebiopsyindiagnosticprocessofinfanthypotoniafromclinicalclassificationtothegeneticoutcome AT venerusomarco roleofmusclebiopsyindiagnosticprocessofinfanthypotoniafromclinicalclassificationtothegeneticoutcome AT fiorillochiara roleofmusclebiopsyindiagnosticprocessofinfanthypotoniafromclinicalclassificationtothegeneticoutcome AT brodapaolo roleofmusclebiopsyindiagnosticprocessofinfanthypotoniafromclinicalclassificationtothegeneticoutcome AT barattoserena roleofmusclebiopsyindiagnosticprocessofinfanthypotoniafromclinicalclassificationtothegeneticoutcome AT traversomonica roleofmusclebiopsyindiagnosticprocessofinfanthypotoniafromclinicalclassificationtothegeneticoutcome AT donatialice roleofmusclebiopsyindiagnosticprocessofinfanthypotoniafromclinicalclassificationtothegeneticoutcome AT savastasalvatore roleofmusclebiopsyindiagnosticprocessofinfanthypotoniafromclinicalclassificationtothegeneticoutcome AT falsaperlaraffaele roleofmusclebiopsyindiagnosticprocessofinfanthypotoniafromclinicalclassificationtothegeneticoutcome AT mancardimariamargherita roleofmusclebiopsyindiagnosticprocessofinfanthypotoniafromclinicalclassificationtothegeneticoutcome AT pedemontemarina roleofmusclebiopsyindiagnosticprocessofinfanthypotoniafromclinicalclassificationtothegeneticoutcome AT panicuccichiara roleofmusclebiopsyindiagnosticprocessofinfanthypotoniafromclinicalclassificationtothegeneticoutcome AT piatelligianluca roleofmusclebiopsyindiagnosticprocessofinfanthypotoniafromclinicalclassificationtothegeneticoutcome AT pacettimattia roleofmusclebiopsyindiagnosticprocessofinfanthypotoniafromclinicalclassificationtothegeneticoutcome AT moscatelliandrea roleofmusclebiopsyindiagnosticprocessofinfanthypotoniafromclinicalclassificationtothegeneticoutcome AT ramenghilucaantonio roleofmusclebiopsyindiagnosticprocessofinfanthypotoniafromclinicalclassificationtothegeneticoutcome AT nobililino roleofmusclebiopsyindiagnosticprocessofinfanthypotoniafromclinicalclassificationtothegeneticoutcome AT minetticarlo roleofmusclebiopsyindiagnosticprocessofinfanthypotoniafromclinicalclassificationtothegeneticoutcome AT brunoclaudio roleofmusclebiopsyindiagnosticprocessofinfanthypotoniafromclinicalclassificationtothegeneticoutcome |