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Clinical features and diagnosis of Duchenne and Becker muscular dystrophy

Basil T Darras, MD
Section Editors
Marc C Patterson, MD, FRACP
Helen V Firth, DM, FRCP, DCH
Deputy Editor
John F Dashe, MD, PhD


The muscular dystrophies are an inherited group of progressive myopathic disorders resulting from defects in a number of genes required for normal muscle function [1]. Some of the genes responsible for these conditions have been identified. Muscle weakness is the primary symptom.

The genetics, pathogenesis, and clinical characteristics of the Duchenne and Becker muscular dystrophies are reviewed here. The management and treatment of these conditions are discussed separately. (See "Treatment of Duchenne and Becker muscular dystrophy".)

Other muscular dystrophies are reviewed elsewhere. (See "Emery-Dreifuss muscular dystrophy" and "Limb-girdle muscular dystrophy" and "Oculopharyngeal, distal, and congenital muscular dystrophies" and "Myotonic dystrophy: Etiology, clinical features, and diagnosis".)


The Duchenne and Becker muscular dystrophies (as well as a third intermediate form) are caused by mutations of the dystrophin gene and are therefore named dystrophinopathies. Weakness is the principal symptom as muscle fiber degeneration is the primary pathologic process.

The dystrophinopathies are inherited as X-linked recessive traits and have varying clinical characteristics:


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Literature review current through: Sep 2016. | This topic last updated: Jan 21, 2016.
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  1. Emery AE. The muscular dystrophies. Lancet 2002; 359:687.
  2. Worton R. Muscular dystrophies: diseases of the dystrophin-glycoprotein complex. Science 1995; 270:755.
  3. Kunkel LM, Hejtmancik JF, Caskey CT, et al. Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature 1986; 322:73.
  4. Ervasti JM, Ohlendieck K, Kahl SD, et al. Deficiency of a glycoprotein component of the dystrophin complex in dystrophic muscle. Nature 1990; 345:315.
  5. Hoffman EP, Brown RH Jr, Kunkel LM. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell 1987; 51:919.
  6. Darras BT, Menache-Stroninki CC, Hinton V, Kunkel LM. Dystrophinopathies. In: Neuromuscular Disorders of Infancy, Childhood and Adolescence: A Clinician’s Approach, 2nd ed, Darras BT, Jones HR Jr, Ryan MM, De Vivo DC (Eds), Academic Press, San Diego 2015. p.551-592.
  7. Aartsma-Rus A, Van Deutekom JC, Fokkema IF, et al. Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule. Muscle Nerve 2006; 34:135.
  8. Takeshima Y, Yagi M, Okizuka Y, et al. Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center. J Hum Genet 2010; 55:379.
  9. Darras BT, Miller DR, Urion DK. Dystrophinopathies. GeneReviews. www.ncbi.nlm.nih.gov/books/NBK1119/ (Accessed on June 23, 2015).
  10. Monaco AP, Bertelson CJ, Liechti-Gallati S, et al. An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics 1988; 2:90.
  11. Petrof BJ, Shrager JB, Stedman HH, et al. Dystrophin protects the sarcolemma from stresses developed during muscle contraction. Proc Natl Acad Sci U S A 1993; 90:3710.
  12. Grady RM, Teng H, Nichol MC, et al. Skeletal and cardiac myopathies in mice lacking utrophin and dystrophin: a model for Duchenne muscular dystrophy. Cell 1997; 90:729.
  13. Rafael JA, Tinsley JM, Potter AC, et al. Skeletal muscle-specific expression of a utrophin transgene rescues utrophin-dystrophin deficient mice. Nat Genet 1998; 19:79.
  14. Irie A, Koyama S, Kozutsumi Y, et al. The molecular basis for the absence of N-glycolylneuraminic acid in humans. J Biol Chem 1998; 273:15866.
  15. Chandrasekharan K, Yoon JH, Xu Y, et al. A human-specific deletion in mouse Cmah increases disease severity in the mdx model of Duchenne muscular dystrophy. Sci Transl Med 2010; 2:42ra54.
  16. Sacco A, Mourkioti F, Tran R, et al. Short telomeres and stem cell exhaustion model Duchenne muscular dystrophy in mdx/mTR mice. Cell 2010; 143:1059.
  17. Lai Y, Thomas GD, Yue Y, et al. Dystrophins carrying spectrin-like repeats 16 and 17 anchor nNOS to the sarcolemma and enhance exercise performance in a mouse model of muscular dystrophy. J Clin Invest 2009; 119:624.
  18. Sander M, Chavoshan B, Harris SA, et al. Functional muscle ischemia in neuronal nitric oxide synthase-deficient skeletal muscle of children with Duchenne muscular dystrophy. Proc Natl Acad Sci U S A 2000; 97:13818.
  19. Percival JM, Anderson KN, Gregorevic P, et al. Functional deficits in nNOSmu-deficient skeletal muscle: myopathy in nNOS knockout mice. PLoS One 2008; 3:e3387.
  20. Kobayashi YM, Rader EP, Crawford RW, et al. Sarcolemma-localized nNOS is required to maintain activity after mild exercise. Nature 2008; 456:511.
  21. Brenman JE, Chao DS, Xia H, et al. Nitric oxide synthase complexed with dystrophin and absent from skeletal muscle sarcolemma in Duchenne muscular dystrophy. Cell 1995; 82:743.
  22. Heydemann A, McNally E. NO more muscle fatigue. J Clin Invest 2009; 119:448.
  23. Bodensteiner JB, Engel AG. Intracellular calcium accumulation in Duchenne dystrophy and other myopathies: a study of 567,000 muscle fibers in 114 biopsies. Neurology 1978; 28:439.
  24. Fong PY, Turner PR, Denetclaw WF, Steinhardt RA. Increased activity of calcium leak channels in myotubes of Duchenne human and mdx mouse origin. Science 1990; 250:673.
  25. Robert V, Massimino ML, Tosello V, et al. Alteration in calcium handling at the subcellular level in mdx myotubes. J Biol Chem 2001; 276:4647.
  26. Blake DJ, Weir A, Newey SE, Davies KE. Function and genetics of dystrophin and dystrophin-related proteins in muscle. Physiol Rev 2002; 82:291.
  27. Bellinger AM, Reiken S, Carlson C, et al. Hypernitrosylated ryanodine receptor calcium release channels are leaky in dystrophic muscle. Nat Med 2009; 15:325.
  28. Tidball JG, Villalta SA. NO may prompt calcium leakage in dystrophic muscle. Nat Med 2009; 15:243.
  29. Turner PR, Westwood T, Regen CM, Steinhardt RA. Increased protein degradation results from elevated free calcium levels found in muscle from mdx mice. Nature 1988; 335:735.
  30. Spencer MJ, Croall DE, Tidball JG. Calpains are activated in necrotic fibers from mdx dystrophic mice. J Biol Chem 1995; 270:10909.
  31. Pegoraro E, Hoffman EP, Piva L, et al. SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy. Neurology 2011; 76:219.
  32. Flanigan KM, Ceco E, Lamar KM, et al. LTBP4 genotype predicts age of ambulatory loss in Duchenne muscular dystrophy. Ann Neurol 2013; 73:481.
  33. Bello L, Kesari A, Gordish-Dressman H, et al. Genetic modifiers of ambulation in the Cooperative International Neuromuscular Research Group Duchenne Natural History Study. Ann Neurol 2015; 77:684.
  34. van den Bergen JC, Hiller M, Böhringer S, et al. Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants. J Neurol Neurosurg Psychiatry 2015; 86:1060.
  35. Parsons EP, Clarke AJ, Hood K, et al. Newborn screening for Duchenne muscular dystrophy: a psychosocial study. Arch Dis Child Fetal Neonatal Ed 2002; 86:F91.
  36. Centers for Disease Control and Prevention (CDC). Prevalence of Duchenne/Becker muscular dystrophy among males aged 5-24 years - four states, 2007. MMWR Morb Mortal Wkly Rep 2009; 58:1119.
  37. Romitti PA, Zhu Y, Puzhankara S, et al. Prevalence of Duchenne and Becker muscular dystrophies in the United States. Pediatrics 2015; 135:513.
  38. Dooley J, Gordon KE, Dodds L, MacSween J. Duchenne muscular dystrophy: a 30-year population-based incidence study. Clin Pediatr (Phila) 2010; 49:177.
  39. Gardner-Medwin D. Clinical features and classification of the muscular dystrophies. Br Med Bull 1980; 36:109.
  40. Eiholzer U, Boltshauser E, Frey D, et al. Short stature: a common feature in Duchenne muscular dystrophy. Eur J Pediatr 1988; 147:602.
  41. Wood CL, Straub V, Guglieri M, et al. Short stature and pubertal delay in Duchenne muscular dystrophy. Arch Dis Child 2016; 101:101.
  42. Mirski KT, Crawford TO. Motor and cognitive delay in Duchenne muscular dystrophy: implication for early diagnosis. J Pediatr 2014; 165:1008.
  43. Banihani R, Smile S, Yoon G, et al. Cognitive and Neurobehavioral Profile in Boys With Duchenne Muscular Dystrophy. J Child Neurol 2015; 30:1472.
  44. Spurney CF. Cardiomyopathy of Duchenne muscular dystrophy: current understanding and future directions. Muscle Nerve 2011; 44:8.
  45. Sanyal SK, Johnson WW, Thapar MK, Pitner SE. An ultrastructural basis for electrocardiographic alterations associated with Duchenne's progressive muscular dystrophy. Circulation 1978; 57:1122.
  46. Sanyal SK, Johnson WW, Dische MR, et al. Dystrophic degeneration of papillary muscle and ventricular myocardium. A basis for mitral valve prolapse in Duchenne's muscular dystrophy. Circulation 1980; 62:430.
  47. Nigro G, Comi LI, Politano L, Bain RJ. The incidence and evolution of cardiomyopathy in Duchenne muscular dystrophy. Int J Cardiol 1990; 26:271.
  48. Giglio V, Pasceri V, Messano L, et al. Ultrasound tissue characterization detects preclinical myocardial structural changes in children affected by Duchenne muscular dystrophy. J Am Coll Cardiol 2003; 42:309.
  49. Engel AG, Franzini-Armstrong C. Myology, 2nd ed, McGraw-Hill, New York 1994.
  50. Griggs RC, Mendell JR, Miller RG. Evaluation and Treatment of Myopathies, Davis, Philadelphia 1995.
  51. Parker AE, Robb SA, Chambers J, et al. Analysis of an adult Duchenne muscular dystrophy population. QJM 2005; 98:729.
  52. McDonald DG, Kinali M, Gallagher AC, et al. Fracture prevalence in Duchenne muscular dystrophy. Dev Med Child Neurol 2002; 44:695.
  53. Rodillo EB, Fernandez-Bermejo E, Heckmatt JZ, Dubowitz V. Prevention of rapidly progressive scoliosis in Duchenne muscular dystrophy by prolongation of walking with orthoses. J Child Neurol 1988; 3:269.
  54. Smith AD, Koreska J, Moseley CF. Progression of scoliosis in Duchenne muscular dystrophy. J Bone Joint Surg Am 1989; 71:1066.
  55. Oda T, Shimizu N, Yonenobu K, et al. Longitudinal study of spinal deformity in Duchenne muscular dystrophy. J Pediatr Orthop 1993; 13:478.
  56. Galasko CS, Williamson JB, Delaney CM. Lung function in Duchenne muscular dystrophy. Eur Spine J 1995; 4:263.
  57. Bradley WG, Jones MZ, Mussini JM, Fawcett PR. Becker-type muscular dystrophy. Muscle Nerve 1978; 1:111.
  58. Yazawa M, Ikeda S, Owa M, et al. A family of Becker's progressive muscular dystrophy with severe cardiomyopathy. Eur Neurol 1987; 27:13.
  59. Melacini P, Fanin M, Danieli GA, et al. Myocardial involvement is very frequent among patients affected with subclinical Becker's muscular dystrophy. Circulation 1996; 94:3168.
  60. Maeda M, Nakao S, Miyazato H, et al. Cardiac dystrophin abnormalities in Becker muscular dystrophy assessed by endomyocardial biopsy. Am Heart J 1995; 129:702.
  61. Muntoni F, Torelli S, Ferlini A. Dystrophin and mutations: one gene, several proteins, multiple phenotypes. Lancet Neurol 2003; 2:731.
  62. Beggs AH. Dystrophinopathy, the expanding phenotype. Dystrophin abnormalities in X-linked dilated cardiomyopathy. Circulation 1997; 95:2344.
  63. Berko BA, Swift M. X-linked dilated cardiomyopathy. N Engl J Med 1987; 316:1186.
  64. Passamano L, Taglia A, Palladino A, et al. Improvement of survival in Duchenne Muscular Dystrophy: retrospective analysis of 835 patients. Acta Myol 2012; 31:121.
  65. Rosalki SB. Serum enzymes in disease of skeletal muscle. Clin Lab Med 1989; 9:767.
  66. Takami Y, Takeshima Y, Awano H, et al. High incidence of electrocardiogram abnormalities in young patients with duchenne muscular dystrophy. Pediatr Neurol 2008; 39:399.
  67. Perloff JK. Cardiac rhythm and conduction in Duchenne's muscular dystrophy: a prospective study of 20 patients. J Am Coll Cardiol 1984; 3:1263.
  68. Bell CD, Conen PE. Histopathological changes in Duchenne muscular dystrophy. J Neurol Sci 1968; 7:529.
  69. Desguerre I, Mayer M, Leturcq F, et al. Endomysial fibrosis in Duchenne muscular dystrophy: a marker of poor outcome associated with macrophage alternative activation. J Neuropathol Exp Neurol 2009; 68:762.
  70. Peverelli L, Testolin S, Villa L, et al. Histologic muscular history in steroid-treated and untreated patients with Duchenne dystrophy. Neurology 2015; 85:1886.
  71. Hoffman EP, Fischbeck KH, Brown RH, et al. Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy. N Engl J Med 1988; 318:1363.
  72. Hoffman EP, Kunkel LM, Angelini C, et al. Improved diagnosis of Becker muscular dystrophy by dystrophin testing. Neurology 1989; 39:1011.
  73. Darras BT. Molecular genetics of Duchenne and Becker muscular dystrophy. J Pediatr 1990; 117:1.
  74. Muntoni F. Is a muscle biopsy in Duchenne dystrophy really necessary? Neurology 2001; 57:574.
  75. Griggs RC, Bushby K. Continued need for caution in the diagnosis of Duchenne muscular dystrophy. Neurology 2005; 64:1498.
  76. Gatta V, Scarciolla O, Gaspari AR, et al. Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA). Hum Genet 2005; 117:92.
  77. Lalic T, Vossen RH, Coffa J, et al. Deletion and duplication screening in the DMD gene using MLPA. Eur J Hum Genet 2005; 13:1231.
  78. Hwa HL, Chang YY, Chen CH, et al. Multiplex ligation-dependent probe amplification identification of deletions and duplications of the Duchenne muscular dystrophy gene in Taiwanese subjects. J Formos Med Assoc 2007; 106:339.
  79. Zeng F, Ren ZR, Huang SZ, et al. Array-MLPA: comprehensive detection of deletions and duplications and its application to DMD patients. Hum Mutat 2008; 29:190.
  80. Chamberlain JS, Chamberlain JR, Fenwick RG, et al. Diagnosis of Duchenne and Becker muscular dystrophies by polymerase chain reaction. A multicenter study. JAMA 1992; 267:2609.
  81. Xiao Y, Jiang X, Wang R. Screening for DMD/BMD deletion carriers by fluorescence in situ hybridization. Genet Test 2003; 7:195.
  82. Voskova-Goldman A, Peier A, Caskey CT, et al. DMD-specific FISH probes are diagnostically useful in the detection of female carriers of DMD gene deletions. Neurology 1997; 48:1633.
  83. Galvagni F, Saad FA, Danieli GA, et al. A study on duplications of the dystrophin gene: evidence of a geographical difference in the distribution of breakpoints by intron. Hum Genet 1994; 94:83.
  84. White SJ, Aartsma-Rus A, Flanigan KM, et al. Duplications in the DMD gene. Hum Mutat 2006; 27:938.
  85. Bennett RR, den Dunnen J, O'Brien KF, et al. Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing. BMC Genet 2001; 2:17.
  86. Mendell JR, Buzin CH, Feng J, et al. Diagnosis of Duchenne dystrophy by enhanced detection of small mutations. Neurology 2001; 57:645.
  87. Liu Q, Feng J, Buzin C, et al. Detection of virtually all mutations-SSCP (DOVAM-S): a rapid method for mutation scanning with virtually 100% sensitivity. Biotechniques 1999; 26:932, 936.
  88. Flanigan KM, von Niederhausern A, Dunn DM, et al. Rapid direct sequence analysis of the dystrophin gene. Am J Hum Genet 2003; 72:931.
  89. Dolinsky LC, de Moura-Neto RS, Falcão-Conceição DN. DGGE analysis as a tool to identify point mutations, de novo mutations and carriers of the dystrophin gene. Neuromuscul Disord 2002; 12:845.
  90. Hofstra RM, Mulder IM, Vossen R, et al. DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients. Hum Mutat 2004; 23:57.
  91. Hegde MR, Chin EL, Mulle JG, et al. Microarray-based mutation detection in the dystrophin gene. Hum Mutat 2008; 29:1091.
  92. Deburgrave N, Daoud F, Llense S, et al. Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene. Hum Mutat 2007; 28:183.
  93. Joncourt F, Neuhaus B, Jostarndt-Foegen K, et al. Rapid identification of female carriers of DMD/BMD by quantitative real-time PCR. Hum Mutat 2004; 23:385.
  94. Schwartz M, Hertz JM, Sveen ML, Vissing J. LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype. Neurology 2005; 64:1635.
  95. Dent KM, Dunn DM, von Niederhausern AC, et al. Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort. Am J Med Genet A 2005; 134:295.
  96. Darras BT, Koenig M, Kunkel LM, Francke U. Direct method for prenatal diagnosis and carrier detection in Duchenne/Becker muscular dystrophy using the entire dystrophin cDNA. Am J Med Genet 1988; 29:713.
  97. Hoogerwaard EM, Bakker E, Ippel PF, et al. Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in The Netherlands: a cohort study. Lancet 1999; 353:2116.
  98. Bushby KM, Goodship JA, Nicholson LV, et al. Variability in clinical, genetic and protein abnormalities in manifesting carriers of Duchenne and Becker muscular dystrophy. Neuromuscul Disord 1993; 3:57.