Abstract：Duchenne/Becker muscular dystrophy (DMD/BMD) is the most common X-linked recessive inherited neuromuscular disease, characterized by progressive muscle weakness. Mutations in the dystrophin gene are responsible for this disease. Treatment for this disease has always been a topic of interest. With the development of diagnosis and treatment technology of molecular biology, promising therapies have been developed. This review article summarizes the advance in traditional therapy, cell transplantation and gene therapy for this disease.
Nakamura A, Takeda S. Exon-skipping therapy for Duchenne muscular dystrophy[J]. Neuropathology, 2009, 29(4): 494-501.
[2]
Bushby K, Finkel R, Birnkrant DJ, et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management[J]. Lancet Neurol, 2010, 9(1): 77-93.
[3]
Kerr R, Robinson C, Essop FB, et al. Genetic testing for Duchenne/Becker muscular dystrophy in Johannesburg, South Africa[J]. S Afr Med J, 2013, 103(12 Suppl 1): 999-1004.
[4]
Lebel DE, Corston JA, McAdam LC, et al. Glucocorticoid treatment for the prevention of scoliosis in children with Duchenne muscular dystrophy: long-term follow-up[J]. J Bone Joint Surg Am, 2013, 95(12): 1057-1061.
[5]
Biggar WD, Harris VA, Eliasoph L, et al. Long-term benefits of deflazacort treatment for boys with Duchenne muscular dystrophy in their second decade[J]. Neuromuscul Disord, 2006, 16(4): 249-255.
[6]
Barber BJ, Andrews JG, Lu Z, et al. Oral corticosteroids and onset of cardiomyopathy in Duchenne muscular dystrophy[J]. J Pediatr, 2013, 163(4): 1080-1084.
[7]
Sato Y, Yamauchi A, Urano M, et al. Corticosteroid therapy for Duchenne muscular dystrophy: improvement of psychomotor function[J]. Pediatr Neurol, 2014, 50(1): 31-37.
[8]
Takeuchi F, Yonemoto N, Nakamura H, et al. Prednisolone improves walking in Japanese Duchenne muscular dystrophy patients[J]. J Neurol, 2013, 260(12): 3023-3029.
[9]
Schram G, Fournier A, Leduc H, et al. All-cause mortality and cardiovascular outcomes with prophylactic steroid therapy in Duchenne muscular dystrophy[J]. J Am Coll Cardiol, 2013, 61(9): 948-954.
[10]
Escolar DM, Hache LP, Clemens PR, et al. Randomized, blinded trial of weekend vs daily prednisone in Duchenne muscular dystrophy[J]. Neurology, 2011, 77(5): 444-452.
[11]
Moxley RT 3rd, Ashwal S, Pandya S, et al. Practice parameter: corticosteroid treatment of Duchenne dystrophy: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society[J]. Neurology, 2005, 64(1): 13-20.
[12]
Biggar WD, Politano L, Harris VA, et al. Deflazacort in Duchenne muscular dystrophy: a comparison of two different protocols[J]. Neuromuscul Disord, 2004, 14(8-9): 476-482.
[13]
Ricotti V, Ridout DA, Scott E, et al. Long-term benefits and adverse effects of intermittent versus daily glucocorticoids in boys with Duchenne muscular dystrophy[J]. J Neurol Neurosurg Psychiatry, 2013, 84(6): 698-705.
[14]
Houde S, Filiatrault M, Fournier A, et al. Deflazacort use in Duchenne muscular dystrophy: an 8-year follow-up[J]. Pediatr Neurol, 2008, 38(3): 200-206.
[15]
Merlini L, Gennari M, Malaspina E, et al. Early corticosteroid treatment in 4 Duchenne muscular dystrophy patients: 14-year follow-up[J]. Muscle Nerve, 2012, 45(6): 796-802.
[16]
Jansen M, van Alfen N, Geurts AC, et al. Assisted bicycle training delays functional deterioration in boys with Duchenne muscular dystrophy: the randomized controlled trial "no use is disuse"[J]. Neurorehabil Neural Repair, 2013, 27(9): 816-827.
[17]
Myers KA, Ramage B, Khan A, et al. Vibration therapy tolerated in children with Duchenne muscular dystrophy: a pilot study[J]. Pediatr Neurol, 2014, 51(1): 126-129.
Bushby K, Finkel R, Birnkrant DJ, et al. Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care[J]. Lancet Neurol, 2010, 9(2): 177-189.
[20]
Dent KM, Dunn DM, von Niederhausern AC, et al. Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort[J]. Am J Med Genet A, 2005, 134(3): 295-298.
[21]
Barton - Davis ER , Cordier L , Shoturma DI , et al. Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice[J]. J Clin Invest, 1999, 104(4): 375-381.
[22]
Malik V, Rodino-Klapac LR, Viollet L, et al. Gentamicininduced readthrough of stop codons in Duchenne muscular dystrophy[J]. Ann Neurol, 2010, 67(6): 771-780.
[23]
Perez B, Rodriguez-Pombo P, Ugarte M, et al. Readthrough strategies for therapeutic suppression of nonsense mutations in inherited metabolic disease[J]. Mol Syndromol, 2012, 3(5): 230-236.
[24]
Welch EM, Barton ER, Zhuo J, et al. PTC124 targets genetic disorders caused by nonsense mutations[J]. Nature, 2007, 447(7140): 87-91.
[25]
Finkel RS, Flanigan KM, Wong B, et al. Phase 2a study of ataluren-mediated dystrophin production in patients with nonsense mutation Duchenne muscular dystrophy[J]. PLoS One, 2013, 8(12): e81302.
[26]
Aoki Y, Yokota T, Wood MJ. Development of multiexon skipping antisense oligonucleotide therapy for Duchenne muscular dystrophy[J]. Biomed Res Int, 2013, 2013: 402369.
[27]
Aartsma-Rus A, van Vliet L, Hirschi M, et al. Guidelines for antisense oligonucleotide design and insight into splicemodulating mechanisms[J]. Mol Ther, 2009, 17(3): 548-553.
[28]
Yin H, Moulton HM, Seow Y, et al. Cell-penetrating peptideconjugated antisense oligonucleotides restore systemic muscle and cardiac dystrophin expression and function[J]. Hum Mol Genet, 2008, 17(24): 3909-3918.
[29]
Cirak S, Arechavala-Gomeza V, Guglieri M, et al. Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study[J]. Lancet, 2011, 378(9791): 595-605.
[30]
Malerba A, Sharp PS, Graham IR, et al. Chronic systemic therapy with low-dose morpholino oligomers ameliorates the pathology and normalizes locomotor behavior in mdx mice[J]. Mol Ther, 2011, 19(2): 345-354.
[31]
Yokota T, Lu QL, Partridge T, et al. Efficacy of systemic morpholino exon-skipping in Duchenne dystrophy dogs[J]. Ann Neurol, 2009, 65(6): 667-676.
[32]
Goemans NM, Tulinius M, van den Akker JT, et al. Systemic administration of PRO051 in Duchenne's muscular dystrophy[J]. N Engl J Med, 2011, 364(16): 1513-1522.
[33]
Lu QL, Rabinowitz A, Chen YC, et al. Systemic delivery of antisense oligoribonucleotide restores dystrophin expression in body-wide skeletal muscles[J]. Proc Natl Acad Sci U S A, 2005, 102(1): 198-203.
[34]
Aartsma-Rus A, Fokkema I, Verschuuren J, et al. Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations[J]. Hum Mutat, 2009, 30(3): 293-299.
Meregalli M, Farini A, Colleoni F, et al. The role of stem cells in muscular dystrophies[J]. Curr Gene Ther, 2012, 12(3): 192-205.
[37]
Dezawa M, Ishikawa H, Itokazu Y, et al. Bone marrow stromal cells generate muscle cells and repair muscle degeneration[J]. Science, 2005, 309(5732): 314-317.
Peault B, Rudnicki M, Torrente Y, et al. Stem and progenitor cells in skeletal muscle development, maintenance, and therapy[J]. Mol Ther, 2007, 15(5): 867-877.
[41]
Skuk D, Roy B, Goulet M, et al. Dystrophin expression in myofibers of Duchenne muscular dystrophy patients following intramuscular injections of normal myogenic cells[J]. Mol Ther, 2004, 9(3): 475-482.
[42]
Hogrel JY, Zagnoli F, Canal A, et al. Assessment of a symptomatic Duchenne muscular dystrophy carrier 20 years after myoblast transplantation from her asymptomatic identical twin sister[J]. Neuromuscul Disord, 2013, 23(7): 575-579.
