Cargando…

Diagnosis of Duchenne Muscular Dystrophy in a Presymptomatic Infant Using Next-Generation Sequencing and Chromosomal Microarray Analysis: A Case Report

Duchenne muscular dystrophy is a progressive and lethal X-linked recessive neuromuscular disease caused by mutations in the dystrophin gene. It has a high rate of diagnostic delay; early diagnosis and treatment are often not possible due to delayed recognition of muscle weakness and lack of effectiv...

Descripción completa

Detalles Bibliográficos
Autores principales: Park, Eun-Woo, Shim, Ye-Jee, Ha, Jung-Sook, Shin, Jin-Hong, Lee, Soyoung, Cho, Jang-Hyuk
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8151037/
https://www.ncbi.nlm.nih.gov/pubmed/34064562
http://dx.doi.org/10.3390/children8050377
_version_ 1783698289159307264
author Park, Eun-Woo
Shim, Ye-Jee
Ha, Jung-Sook
Shin, Jin-Hong
Lee, Soyoung
Cho, Jang-Hyuk
author_facet Park, Eun-Woo
Shim, Ye-Jee
Ha, Jung-Sook
Shin, Jin-Hong
Lee, Soyoung
Cho, Jang-Hyuk
author_sort Park, Eun-Woo
collection PubMed
description Duchenne muscular dystrophy is a progressive and lethal X-linked recessive neuromuscular disease caused by mutations in the dystrophin gene. It has a high rate of diagnostic delay; early diagnosis and treatment are often not possible due to delayed recognition of muscle weakness and lack of effective treatments. Current treatments based on genetic therapy can improve clinical results, but treatment must begin as early as possible before significant muscle damage. Therefore, early diagnosis and rehabilitation of Duchenne muscular dystrophy are needed before symptom aggravation. Creatine kinase is a diagnostic marker of neuromuscular disorders. Herein, the authors report a case of an infant patient with Duchenne muscular dystrophy with a highly elevated creatine kinase level but no obvious symptoms of muscle weakness. The patient was diagnosed with Duchenne muscular dystrophy via next-generation sequencing and chromosomal microarray analysis to identify possible inherited metabolic and neuromuscular diseases related to profound hyperCKemia. The patient is enrolled in a rehabilitation program and awaits the approval of the genetic treatment in Korea. This is the first report of an infantile presymptomatic Duchenne muscular dystrophy diagnosis using next-generation sequencing and chromosomal microarray analysis.
format Online
Article
Text
id pubmed-8151037
institution National Center for Biotechnology Information
language English
publishDate 2021
publisher MDPI
record_format MEDLINE/PubMed
spelling pubmed-81510372021-05-27 Diagnosis of Duchenne Muscular Dystrophy in a Presymptomatic Infant Using Next-Generation Sequencing and Chromosomal Microarray Analysis: A Case Report Park, Eun-Woo Shim, Ye-Jee Ha, Jung-Sook Shin, Jin-Hong Lee, Soyoung Cho, Jang-Hyuk Children (Basel) Case Report Duchenne muscular dystrophy is a progressive and lethal X-linked recessive neuromuscular disease caused by mutations in the dystrophin gene. It has a high rate of diagnostic delay; early diagnosis and treatment are often not possible due to delayed recognition of muscle weakness and lack of effective treatments. Current treatments based on genetic therapy can improve clinical results, but treatment must begin as early as possible before significant muscle damage. Therefore, early diagnosis and rehabilitation of Duchenne muscular dystrophy are needed before symptom aggravation. Creatine kinase is a diagnostic marker of neuromuscular disorders. Herein, the authors report a case of an infant patient with Duchenne muscular dystrophy with a highly elevated creatine kinase level but no obvious symptoms of muscle weakness. The patient was diagnosed with Duchenne muscular dystrophy via next-generation sequencing and chromosomal microarray analysis to identify possible inherited metabolic and neuromuscular diseases related to profound hyperCKemia. The patient is enrolled in a rehabilitation program and awaits the approval of the genetic treatment in Korea. This is the first report of an infantile presymptomatic Duchenne muscular dystrophy diagnosis using next-generation sequencing and chromosomal microarray analysis. MDPI 2021-05-11 /pmc/articles/PMC8151037/ /pubmed/34064562 http://dx.doi.org/10.3390/children8050377 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Park, Eun-Woo
Shim, Ye-Jee
Ha, Jung-Sook
Shin, Jin-Hong
Lee, Soyoung
Cho, Jang-Hyuk
Diagnosis of Duchenne Muscular Dystrophy in a Presymptomatic Infant Using Next-Generation Sequencing and Chromosomal Microarray Analysis: A Case Report
title Diagnosis of Duchenne Muscular Dystrophy in a Presymptomatic Infant Using Next-Generation Sequencing and Chromosomal Microarray Analysis: A Case Report
title_full Diagnosis of Duchenne Muscular Dystrophy in a Presymptomatic Infant Using Next-Generation Sequencing and Chromosomal Microarray Analysis: A Case Report
title_fullStr Diagnosis of Duchenne Muscular Dystrophy in a Presymptomatic Infant Using Next-Generation Sequencing and Chromosomal Microarray Analysis: A Case Report
title_full_unstemmed Diagnosis of Duchenne Muscular Dystrophy in a Presymptomatic Infant Using Next-Generation Sequencing and Chromosomal Microarray Analysis: A Case Report
title_short Diagnosis of Duchenne Muscular Dystrophy in a Presymptomatic Infant Using Next-Generation Sequencing and Chromosomal Microarray Analysis: A Case Report
title_sort diagnosis of duchenne muscular dystrophy in a presymptomatic infant using next-generation sequencing and chromosomal microarray analysis: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8151037/
https://www.ncbi.nlm.nih.gov/pubmed/34064562
http://dx.doi.org/10.3390/children8050377
work_keys_str_mv AT parkeunwoo diagnosisofduchennemusculardystrophyinapresymptomaticinfantusingnextgenerationsequencingandchromosomalmicroarrayanalysisacasereport
AT shimyejee diagnosisofduchennemusculardystrophyinapresymptomaticinfantusingnextgenerationsequencingandchromosomalmicroarrayanalysisacasereport
AT hajungsook diagnosisofduchennemusculardystrophyinapresymptomaticinfantusingnextgenerationsequencingandchromosomalmicroarrayanalysisacasereport
AT shinjinhong diagnosisofduchennemusculardystrophyinapresymptomaticinfantusingnextgenerationsequencingandchromosomalmicroarrayanalysisacasereport
AT leesoyoung diagnosisofduchennemusculardystrophyinapresymptomaticinfantusingnextgenerationsequencingandchromosomalmicroarrayanalysisacasereport
AT chojanghyuk diagnosisofduchennemusculardystrophyinapresymptomaticinfantusingnextgenerationsequencingandchromosomalmicroarrayanalysisacasereport