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 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.

[1]  M. Chang,et al.  Dilemmas Within the Korean Health Insurance System , 2020, Journal of preventive medicine and public health = Yebang Uihakhoe chi.

[2]  G. Vita,et al.  Is it the right time for an infant screening for Duchenne muscular dystrophy? , 2020, Neurological Sciences.

[3]  L. Werneck,et al.  Duchenne muscular dystrophy: an historical treatment review. , 2019, Arquivos de neuro-psiquiatria.

[4]  A. Aartsma-Rus,et al.  Therapeutic developments for Duchenne muscular dystrophy , 2019, Nature Reviews Neurology.

[5]  G. Lin,et al.  Molecular genetic testing and diagnosis strategies for dystrophinopathies in the era of next generation sequencing. , 2019, Clinica chimica acta; international journal of clinical chemistry.

[6]  S. Pandya,et al.  Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management , 2018, The Lancet Neurology.

[7]  M. Mojarrad,et al.  Duchenne muscular dystrophy: an updated review of common available therapies , 2018, The International journal of neuroscience.

[8]  K. Ormond,et al.  National Society of Genetic Counselors Code of Ethics: Explication of 2017 Revisions , 2018, Journal of Genetic Counseling.

[9]  The National Society of Genetic Counselors National Society of Genetic Counselors Code of Ethics , 2018, Journal of Genetic Counseling.

[10]  M. Tarnopolsky,et al.  Next-Generation Sequencing to Diagnose Muscular Dystrophy, Rhabdomyolysis, and HyperCKemia , 2018, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

[11]  A. Soylu,et al.  Rhabdomyolysis with different etiologies in childhood , 2017, World journal of clinical pediatrics.

[12]  Sun Ho Lee,et al.  Chromosomal Microarray Testing in 42 Korean Patients with Unexplained Developmental Delay, Intellectual Disability, Autism Spectrum Disorders, and Multiple Congenital Anomalies , 2017, Genomics & informatics.

[13]  S. Venance Approach to the Patient With HyperCKemia , 2016, Continuum.

[14]  J. Mendell,et al.  Clinical Follow‐Up for Duchenne Muscular Dystrophy Newborn Screening: A Proposal , 2016, Muscle & nerve.

[15]  E. Naylor,et al.  Twenty‐year follow‐up of newborn screening for patients with muscular dystrophy , 2016, Muscle & nerve.

[16]  A. Kornberg,et al.  Duchenne muscular dystrophy , 2015, Journal of paediatrics and child health.

[17]  J. Holton,et al.  Rhabdomyolysis: a genetic perspective , 2015, Orphanet Journal of Rare Diseases.

[18]  G. Wolfe,et al.  Asymptomatic/pauci‐symptomatic creatine kinase elevations (hyperckemia) , 2013, Muscle & nerve.

[19]  J. Westfall,et al.  Consider Muscle Disease in Children with Elevated Transaminase , 2012, The Journal of the American Board of Family Medicine.

[20]  Cindy Hamil,et al.  Evidence‐based path to newborn screening for duchenne muscular dystrophy , 2012, Annals of neurology.

[21]  Kevin M Flanigan,et al.  The Muscular Dystrophies , 1999, Seminars in Neurology.