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Research Article Open access CC BY 4.0

A Comprehensive Review of Duchenne Muscular Dystrophy: Genetics, Clinical Presentation, Diagnosis, and Treatment

Kylie A. Limback, William D. Jacobus, Amber Wiggins-McDaniel, Ramon Newman, Robert A. White

Biotechnology Journal International · pp. 1–31 · Published 29 Dec 2022

10.9734/bji/2022/v26i6662

Abstract

Duchenne Muscular Dystrophy (DMD) is a genetic disorder involving progressive muscle deterioration leading to loss of mobility, cardiomyopathy, and respiratory complications leading to an early death by the fourth decade of life. Males are affected more often as DMD results from a mutation in the dystrophin gene residing on the X chromosome. The DMD genetic mutation results in a complete functional lack of dystrophin, which culminates as an inadequate connection between the intracellular actin filaments and the extracellular skeleton of muscle. Boys affected by DMD clinically present with muscle weakness before age five, are often wheelchair-bound by age 12, and rarely survive beyond the third decade of life. Traditional treatment strategies have focused primarily on quality-of-life improvement and have included the use of glucocorticoids and physical therapy. No cure currently exists, however many novel treatments for DMD are currently being explored. Some of these involve gene therapy, exon skipping, stop codon skipping, CRISPR technology interventions, and the use of a retinal dystrophin isoform. In this comprehensive review, we recapitulate the literature findings to summarize the history, epidemiology, genetics, clinical presentation, diagnosis, and current and future strategies for the treatment of Duchenne Muscular Dystrophy.

Duchenne muscular dystrophy dystrophin retinal dystrophin antisense oligonucleotide treatments diagnosis symptoms genetics

References (174)

  1. 1 Membrane organization of the dystrophin-glycoprotein complex [DOI]
  2. 2 Eteplirsen for the treatment of Duchenne muscular dystrophy [DOI]
  3. 3 The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations [DOI]
  4. 4 Utrophin-Dystrophin-Deficient Mice as a Model for Duchenne Muscular Dystrophy [DOI]
  5. 5 The incidence and evolution of cardiomyopathy in Duchenne muscular dystrophy [DOI]
  6. 6 Prevention of muscular dystrophy in mice by CRISPR/Cas9–mediated editing of germline DNA [DOI]
  7. 7 Duchenne muscular dystrophy: Deficiency of dystrophin at the muscle cell surface [DOI]
  8. 8 Amelioration of the dystrophic phenotype of mdx mice using a truncated utrophin transgene [DOI]
  9. 9 Multiplex CRISPR/Cas9-based genome editing for correction of dystrophin mutations that cause Duchenne muscular dystrophy [DOI]
  10. 10 Deletion of the Dystrophin Muscle-Promoter Region Associated with X-Linked Dilated Cardiomyopathy [DOI]
  11. 11 Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies.
  12. 12 Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase [DOI]
  13. 13 Loss of myostatin attenuates severity of muscular dystrophy in mdx mice [DOI]
  14. 14 Changes in Spirometry Over Time as a Prognostic Marker in Patients with Duchenne Muscular Dystrophy [DOI]
  15. 15 Sarcolemma-localized nNOS is required to maintain activity after mild exercise [DOI]
  16. 16 Duchenne muscular dystrophy [DOI]
  17. 17 Use of Skeletal Muscle MRI in Diagnosis and Monitoring Disease Progression in Duchenne Muscular Dystrophy [DOI]
  18. 18 Serum Creatine Phosphokinase [DOI]
  19. 19 Progression of scoliosis in Duchenne muscular dystrophy. [DOI]
  20. 20 Microarray-based mutation detection in thedystrophingene [DOI]
  21. 21 Uniparental disomy of the entire X chromosome in a female with Duchenne muscular dystrophy.
  22. 22 Surgery for scoliosis in Duchenne muscular dystrophy [DOI]
  23. 23 A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies [DOI]
  24. 24 Vascular Delivery of rAAVrh74.MCK.GALGT2 to the Gastrocnemius Muscle of the Rhesus Macaque Stimulates the Expression of Dystrophin and Laminin α2 Surrogates [DOI]
  25. 25 Expression and synthesis of alternatively spliced variants of Dp71 in adult human brain [DOI]
  26. 26 Quantitative muscle ultrasound in Duchenne muscular dystrophy: A comparison of techniques [DOI]
  27. 27 The Shortest Isoform of Dystrophin (Dp40) Interacts with a Group of Presynaptic Proteins to Form a Presumptive Novel Complex in the Mouse Brain [DOI]
  28. 28 Cryptic MHC class I-binding peptides are revealed by aminoglycoside-induced stop codon read-through into the 3′ UTR [DOI]
  29. 29 A dual acting compound releasing nitric oxide (NO) and ibuprofen, NCX 320, shows significant therapeutic effects in a mouse model of muscular dystrophy [DOI]
  30. 30 Sodium nitrate alleviates functional muscle ischaemia in patients with Becker muscular dystrophy [DOI]
  31. 31 Identification of α-Syntrophin Binding to Syntrophin Triplet, Dystrophin, and Utrophin [DOI]
  32. 32 LANGUAGE AND LEARNING DISORDERS OF OLDER BOYS WITH DUCHENNE MUSCULAR DYSTROPHY [DOI]
  33. 33 The prevalence and prognostic significance of arrhythmias in Duchenne type muscular dystrophy [DOI]
  34. 34 Enhanced Na+/H+ Exchange Activity Contributes to the Pathogenesis of Muscular Dystrophy via Involvement of P2 Receptors [DOI]
  35. 35 Duchenne muscular dystrophy [DOI]
  36. 36 A randomized controlled trial of early surgery in duchenne muscular dystrophy [DOI]
  37. 37 Direct detection of more than 50% of the Duchenne muscular dystrophy mutations by field inversion gels [DOI]
  38. 38 Determination of the exon structure of the distal portion of the dystrophin gene by vectorette PCR [DOI]
  39. 39 Dystrophin as a Diagnostic Marker in Duchenne and Becker Muscular Dystrophy. Correlation of Immunofluorescence and Western Blot [DOI]
  40. 40 Utrophin expression during human fetal development [DOI]
  41. 41 Multiplex PCR for Identifying DMD Gene Deletions [DOI]
  42. 42 G.P.88 [DOI]
  43. 43 A giant locus for the Duchenne and Becker muscular dystrophy gene [DOI]
  44. 44 A quantitative polymerase chain reaction (PCR) assay completely discriminates between Duchenne and Becker muscular dystrophy deletion carriers and normal females [DOI]
  45. 45 Screening for DMD/BMD Deletion Carriers by Fluorescence In Situ Hybridization [DOI]
  46. 46 The Dystrophin Complex: Structure, Function, and Implications for Therapy [DOI]
  47. 47 Is a muscle biopsy in Duchenne dystrophy really necessary? [DOI]
  48. 48 Molecular Genetics of Dystrophinopathies [DOI]
  49. 49 Surgery for scoliosis in Duchenne muscular dystrophy [DOI]
  50. 50 Dystrophin protects the sarcolemma from stresses developed during muscle contraction. [DOI]
  51. 51 The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein [DOI]
  52. 52 An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus [DOI]
  53. 53 Dystrophin and mutations: one gene, several proteins, multiple phenotypes [DOI]
  54. 54 Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene [DOI]
  55. 55 Functional improvement of dystrophic muscle by myostatin blockade [DOI]
  56. 56 Association of dystrophin and an integral membrane glycoprotein [DOI]
  57. 57 The Duchenne muscular dystrophy gene product is localized in sarcolemma of human skeletal muscle [DOI]
  58. 58 The structural and functional diversity of dystrophin [DOI]
  59. 59 X-linked dilated cardiomyopathy. Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus. [DOI]
  60. 60 A systematic review and meta-analysis on the epidemiology of Duchenne and Becker muscular dystrophy [DOI]
  61. 61 Muscular dystrophies involving the dystrophin–glycoprotein complex: an overview of current mouse models [DOI]
  62. 62 Neuronal nitric oxide synthase and dystrophin-deficient muscular dystrophy. [DOI]
  63. 63 Perindopril preventive treatment on mortality in Duchenne muscular dystrophy: 10 years' follow-up [DOI]
  64. 64 Eplerenone for early cardiomyopathy in Duchenne muscular dystrophy: a randomised, double-blind, placebo-controlled trial [DOI]
  65. 65 Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center [DOI]
  66. 66 Cognitive and Neurobehavioral Profile in Boys With Duchenne Muscular Dystrophy [DOI]
  67. 67 Sleep‐related breathing disorder in Duchenne muscular dystrophy: Disease spectrum in the paediatric population [DOI]
  68. 68 Effects of Angiotensin-Converting Enzyme Inhibitors and/or Beta Blockers on the Cardiomyopathy in Duchenne Muscular Dystrophy [DOI]
  69. 69 Clinical and genetic characterization of manifesting carriers of DMD mutations [DOI]
  70. 70 Sildenafil reverses cardiac dysfunction in the mdx mouse model of Duchenne muscular dystrophy [DOI]
  71. 71 Oral muscles are progressively affected in Duchenne muscular dystrophy: implications for dysphagia treatment [DOI]
  72. 72 Improved diagnosis of Becker muscular dystrophy by dystrophin testing [DOI]
  73. 73 Eine neue x-chromosomale Muskeldystrophie [DOI]
  74. 74 A Cluster of Basic Repeats in the Dystrophin Rod Domain Binds F-actin through an Electrostatic Interaction [DOI]
  75. 75 Intellect and Behaviour in Duchenne Muscular Dystrophy [DOI]
  76. 76 Association of Duchenne Muscular Dystrophy With Autism Spectrum Disorder [DOI]
  77. 77 Ventricular arrhythmia in Duchenne muscular dystrophy: Prevalence, significance and prognosis [DOI]
  78. 78 Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA) [DOI]
  79. 79 Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing [DOI]
  80. 80 Serum Transaminase Levels in Boys With Duchenne and Becker Muscular Dystrophy [DOI]
  81. 81 Duchenne/Becker muscular dystrophy: correlation of phenotype by electroretinography with sites of dystrophin mutations [DOI]
  82. 82 Differences in carrier frequency between mothers of Duchenne and Becker muscular dystrophy patients [DOI]
  83. 83 Whole dystrophin gene analysis by next-generation sequencing: a comprehensive genetic diagnosis of Duchenne and Becker muscular dystrophy [DOI]
  84. 84 De novo DNA microdeletion in a girl with Turner syndrome and Duchenne muscular dystrophy [DOI]
  85. 85 Molecular and clinical correlations of deletions leading to Duchenne and Becker muscular dystrophies [DOI]
  86. 86 Expression of the N‐terminal domain of dystrophin in E. coli and demonstration of binding to F‐actin [DOI]
  87. 87 Role of dystrophin isoforms and associated proteins in muscular dystrophy (review). [DOI]
  88. 88 Sarcospan integration into laminin-binding adhesion complexes that ameliorate muscular dystrophy requires utrophin and α7 integrin [DOI]
  89. 89 Nitric oxide donors improve prednisone effects on muscular dystrophy in the mdx mouse diaphragm [DOI]
  90. 90 The interaction of actin with dystrophin [DOI]
  91. 91 Molecular deletion patterns in Duchenne and Becker type muscular dystrophy [DOI]
  92. 92 The role of muscle biopsy in analysis of the dystrophin gene in Duchenne muscular dystrophy: experience of a national referral centre [DOI]
  93. 93 Early amniocentesis: Experience of 222 consecutive patients, 1987–1988 [DOI]
  94. 94 Infraspinatus muscle hypertrophy and wasting of axillary folds as the important signs in Duchenne muscular dystrophy [DOI]
  95. 95 One Hundred Twenty-One Dystrophin Point Mutations Detected from Stored DNA Samples by Combinatorial Denaturing High-Performance Liquid Chromatography [DOI]
  96. 96 Rapid method for targeted prenatal diagnosis of Duchenne muscular dystrophy in Vietnam [DOI]
  97. 97 Development and validation of laboratory procedures for preimplantation diagnosis of Duchenne muscular dystrophy. [DOI]
  98. 98 Detection of Duchenne and Becker muscular dystrophy carriers by quantitative multiplex polymerase chain reaction analysis [DOI]
  99. 99 Localization and characterization of dystrophin in muscle biopsy specimens from Duchenne muscular dystrophy and various neuromuscular disorders [DOI]
  100. 100 Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management [DOI]
  101. 101 The muscular dystrophies [DOI]
  102. 102 Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management [DOI]
  103. 103 Characterization of Dystrophin in Muscle-Biopsy Specimens from Patients with Duchenne's or Becker's Muscular Dystrophy [DOI]
  104. 104 Evidence‐based path to newborn screening for duchenne muscular dystrophy [DOI]
  105. 105 Respiratory Care of the Patient with Duchenne Muscular Dystrophy [DOI]
  106. 106 Dystrophin Immunity in Duchenne's Muscular Dystrophy [DOI]
  107. 107 Precise Correction of the Dystrophin Gene in Duchenne Muscular Dystrophy Patient Induced Pluripotent Stem Cells by TALEN and CRISPR-Cas9 [DOI]
  108. 108 Longitudinal effect of eteplirsen versus historical control on ambulation in D uchenne muscular dystrophy [DOI]
  109. 109 Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial [DOI]
  110. 110 Duchenne Muscular Dystrophy: From Diagnosis to Therapy [DOI]
  111. 111 Antisense-induced exon skipping restores dystrophin expression in DMD patient derived muscle cells [DOI]
  112. 112 Neuropsychiatric Disorders in Males With Duchenne Muscular Dystrophy: Frequency Rate of Attention-Deficit Hyperactivity Disorder (ADHD), Autism Spectrum Disorder, and Obsessive—Compulsive Disorder [DOI]
  113. 113 Mosaicism in CRISPR/Cas9-mediated genome editing [DOI]
  114. 114 Myostatin inhibitor ACE‐031 treatment of ambulatory boys with Duchenne muscular dystrophy: Results of a randomized, placebo‐controlled clinical trial [DOI]
  115. 115 Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in the Netherlands: a cohort study [DOI]
  116. 116 Timing and localization of human dystrophin isoform expression provide insights into the cognitive phenotype of Duchenne muscular dystrophy [DOI]
  117. 117 Ataluren stimulates ribosomal selection of near-cognate tRNAs to promote nonsense suppression [DOI]
  118. 118 PDE5 inhibition alleviates functional muscle ischemia in boys with Duchenne muscular dystrophy [DOI]
  119. 119 Why are some patients with Duchenne muscular dystrophy dying young: An analysis of causes of death in North East England [DOI]
  120. 120 A review of quality of life themes in Duchenne muscular dystrophy for patients and carers [DOI]
  121. 121 A novel rabbit model of Duchenne muscular dystrophy generated by CRISPR/Cas9 [DOI]
  122. 122 Chromosomal Microarray Analysis as a First-Tier Clinical Diagnostic Test in Patients With Developmental Delay/Intellectual Disability, Autism Spectrum Disorders, and Multiple Congenital Anomalies: A Prospective Multicenter Study in Korea [DOI]
  123. 123 Mechanical function of dystrophin in muscle cells. [DOI]
  124. 124 The Pathomechanics of Gait in Duchenne Muscular Dystrophy [DOI]
  125. 125 Adeno-associated virus vector-mediated gene transfer into dystrophin-deficient skeletal muscles evokes enhanced immune response against the transgene product [DOI]
  126. 126 Idebenone as a novel, therapeutic approach for Duchenne muscular dystrophy: Results from a 12 month, double-blind, randomized placebo-controlled trial [DOI]
  127. 127 Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations [DOI]
  128. 128 Non‐invasive prenatal diagnosis of Duchenne and Becker muscular dystrophies by relative haplotype dosage [DOI]
  129. 129 Study of Duchenne muscular dystrophy long-term survivors aged 40 years and older living in specialized institutions in Japan [DOI]
  130. 130 Idebenone reduces respiratory complications in patients with Duchenne muscular dystrophy [DOI]
  131. 131 Quality of life of patients with Duchenne muscular dystrophy: from adolescence to young men [DOI]
  132. 132 Quantitative ultrasound of the tongue and submental muscles in children and young adults [DOI]
  133. 133 Diaphragmatic function in advanced Duchenne muscular dystrophy [DOI]
  134. 134 Dystrophin Dp71 Isoforms Are Differentially Expressed in the Mouse Brain and Retina: Report of New Alternative Splicing and a Novel Nomenclature for Dp71 Isoforms [DOI]
  135. 135 A novel human muscle cell model of Duchenne muscular dystrophy created by CRISPR/Cas9 and evaluation of antisense-mediated exon skipping [DOI]
  136. 136 Syntrophin binds to an alternatively spliced exon of dystrophin. [DOI]
  137. 137 Mammalian alpha 1- and beta 1-syntrophin bind to the alternative splice-prone region of the dystrophin COOH terminus. [DOI]
  138. 138 Androgen receptor agonists increase lean mass, improve cardiopulmonary functions and extend survival in preclinical models of Duchenne muscular dystrophy [DOI]
  139. 139 Dystrophin Dp116: A yet to Be Investigated Product of the Duchenne Muscular Dystrophy Gene [DOI]
  140. 140 Dystrophic Cardiomyopathy—Potential Role of Calcium in Pathogenesis, Treatment and Novel Therapies [DOI]
  141. 141 The Carboxy-Terminal Third of Dystrophin Enhances Actin Binding Activity [DOI]
  142. 142 Golodirsen Induces Exon Skipping Leading to Sarcolemmal Dystrophin Expression in Duchenne Muscular Dystrophy Patients With Mutations Amenable to Exon 53 Skipping (S22.001) [DOI]
  143. 143 Duchenne Muscular Dystrophy [DOI]
  144. 144 Differences in Race and Ethnicity in Muscular Dystrophy Mortality Rates for Males under 40 Years of Age, 2006–2015 [DOI]
  145. 145 Tissue-Selective Androgen Receptor Modulators (SARMs) for the treatment of Duchenne muscular dystrophy (DMD) [DOI]
  146. 146 A Phase I, single- and repeated-dose study of TAS-205, a novel inhibitor of hematopoietic prostaglandin D synthase, in patients with Duchenne muscular dystrophy [DOI]
  147. 147 Research from the bedside to the lab bench & back.
  148. 148 Cochrane Database of Systematic Reviews [DOI]
  149. 149 SGT-001 Micro-dystrophin gene therapy for Duchenne muscular dystrophy [DOI]
  150. 150 Global epidemiology of Duchenne muscular dystrophy: an updated systematic review and meta-analysis [DOI]
  151. 151 Long-term evaluation of AAV-CRISPR genome editing for Duchenne muscular dystrophy [DOI]
  152. 152 Increased dystrophin production with golodirsen in patients with Duchenne muscular dystrophy [DOI]
  153. 153 Bone Mineral Density and Fractures in Boys with Duchenne Muscular Dystrophy [DOI]
  154. 154 Long-Term Safety and Efficacy Data of Golodirsen in Ambulatory Patients with Duchenne Muscular Dystrophy Amenable to Exon 53 Skipping: A First-in-human, Multicenter, Two-Part, Open-Label, Phase 1/2 Trial [DOI]
  155. 155 Emerging therapies for Duchenne muscular dystrophy [DOI]
  156. 156 Efficacy and Safety of Vamorolone in Duchenne Muscular Dystrophy [DOI]
  157. 157 Cardiac and skeletal muscle effects in the randomized HOPE-Duchenne trial [DOI]
  158. 158 Long-term treatment with eteplirsen in nonambulatory patients with Duchenne muscular dystrophy [DOI]
  159. 159 Development of DG9 peptide-conjugated single- and multi-exon skipping therapies for the treatment of Duchenne muscular dystrophy [DOI]
  160. 160 Incidence of Duchenne muscular dystrophy in the modern era; an Australian study [DOI]
  161. 161 Mini-dCas13X–mediated RNA editing restores dystrophin expression in a humanized mouse model of Duchenne muscular dystrophy [DOI]
  162. 162 Neuromuscular Disorders of Infancy, Childhood, and Adolescence [DOI]
  163. 163 Rimeporide as a first- in-class NHE-1 inhibitor: Results of a phase Ib trial in young patients with Duchenne Muscular Dystrophy [DOI]
  164. 164 Exercise Training in Duchenne Muscular Dystrophy: A Systematic Review and Meta-Analysis [DOI]
  165. 165 A first-in-human phase I/IIa gene transfer clinical trial for Duchenne muscular dystrophy using rAAVrh74.MCK.GALGT2 [DOI]
  166. 166 CRISPR-Generated Animal Models of Duchenne Muscular Dystrophy [DOI]
  167. 167 The effect of aerobic training on motor function and muscle architecture in children with Duchenne muscular dystrophy: A randomized controlled study [DOI]
  168. 168 Delays in pulmonary decline in eteplirsen‐treated patients with Duchenne muscular dystrophy [DOI]
  169. 169 Morpholino‐induced exon skipping stimulates cell‐mediated and humoral responses to dystrophin in mdx mice [DOI]
  170. 170 Antioxidants for Treatment of Duchenne Muscular Dystrophy: A Systematic Review and Meta-Analysis [DOI]
  171. 171 CRISPR/Cas9-based genome editing for the modification of multiple duplications that cause Duchenne muscular dystrophy [DOI]
  172. 172 Dystrophin-related protein, utrophin, in normal and dystrophic human fetal skeletal muscle [DOI]
  173. 173 Glucocorticoid corticosteroids for Duchenne muscular dystrophy [DOI]
  174. 174 Correction of muscular dystrophies by CRISPR gene editing [DOI]

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