neurojourНеврологический журнал имени Л.О. БадалянаL.O. Badalyan Neurological Journal2686-89972712-794XФГАУ «НМИЦ здоровья детей» Минздрава России10.46563/2686-8997-2025-6-4-234-246graekmneurojour-207Research ArticleОБЗОРЫREVIEWОбзор международных подходов к проведению скрининга на мышечную дистрофию Дюшенна, в том числе в рамках программ неонатального скринингаReview of international approaches to screening for Duchenne muscular dystrophy including neonatal screening programshttps://orcid.org/0000-0002-9918-9565ВоронинСергей ВладимировичVoroninSergey V.

Канд. мед. наук, гл. врач, доцент кафедры биохимической генетики и наследственных болезней обмена веществ ФГБНУ «МГНЦ», Москва, Россия

e-mail: voroninsvvlad@mail.ru

PhD (Medicine), chief physician, Associate Professor, Department of biochemical genetics and hereditary metabolic diseases, Research Centre for Medical Genetics, Moscow, 115522, Russian Federation

e-mail: voroninsvvlad@mail.ru

voroninsvvlad@mail.ruhttps://orcid.org/0000-0001-7261-3461МухортоваПолина АлексеевнаMukhortovaPolina A.

Гл. спец. отдела методологического обеспечения проведения комплексной оценки технологий в здравоохранении ФГБУ «ЦЭККМП» Минздрава России, 109028, Москва, Россия

e-mail: muhortova@rosmedex.ru

Chief specialist, Department of methodological support of health technology assessment, Center for Healthcare Quality Assessment and Control, Moscow, 109028, Russian Federation

e-mail: muhortova@rosmedex.ru

muhortova@rosmedex.ruhttps://orcid.org/0009-0001-7817-5180СлабиковаАлександра АлексеевнаSlabikovaAlexandra A.

Ведущий специалист отдела методологического обеспечения проведения комплексной оценки технологий в здравоохранении ФГБУ «ЦЭККМП» Минздрава России, 109028, Москва, Россия

e-mail: slabikova@rosmedex.ru

Leading specialist, Department of methodological support of health technology assessment, Center for Healthcare Quality Assessment and Control, Moscow, 109028, Russian Federation

e-mail: slabikova@rosmedex.ru

slabikova@rosmedex.ruhttps://orcid.org/0000-0003-1581-0703ОмельяновскийВиталий ВладимировичOmelyanovskiyVitaliy V.

Доктор мед. наук, профессор, генеральный директор ФГБУ «ЦЭККМП» Минздрава России, 109028, Москва, Россия

e-mail: vvo@rosmedex.ru

DSc (Medicine), professor, general director, Center for Healthcare Quality Assessment and Control, Moscow, 109028, Russian Federation; Russian Medical Academy of Continuous Professional Education, Moscow, 125993, Russian Federation

e-mail: vvo@rosmedex.ru

vvo@rosmedex.ruФГБНУ «Медико-генетический научный центр имени академика Н.П. Бочкова» Министерства науки и высшего образования Российской ФедерацииResearch Centre for Medical GeneticsФГБУ «Центр экспертизы и контроля качества медицинской помощи» Министерства здравоохранения Российской ФедерацииCenter for Healthcare Quality Assessment and ControlФГБУ «Центр экспертизы и контроля качества медицинской помощи» Министерства здравоохранения Российской Федерации; ФГБОУ ДПО «Российская медицинская академия непрерывного профессионального образования» Министерства здравоохранения Российской ФедерацииCenter for Healthcare Quality Assessment and Control; Russian Medical Academy of Continuous Professional Education20252901202664234246Copyright © Воронин С.В., Мухортова П.А., Слабикова А.А., Омельяновский В.В., 20262026Воронин С.В., Мухортова П.А., Слабикова А.А., Омельяновский В.В.Voronin S.V., Mukhortova P.A., Slabikova A.A., Omelyanovskiy V.V.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.neuro-journal.ru/jour/article/view/207

Мышечная дистрофия Дюшенна (МДД) — одно из наиболее тяжёлых и распространённых наследственных нервно-мышечных заболеваний, характеризующееся прогрессирующей дегенерацией мышечной ткани, утратой двигательных функций и ранней смертностью пациентов. Несмотря на наличие определённых терапевтических опций, исход заболевания во многом зависит от сроков постановки диагноза и начала наблюдения. Одним из наиболее перспективных направлений раннего выявления заболевания является неонатальный скрининг, основанный на определении активности креатинфосфокиназы (КФК) в образцах сухих пятен крови с последующим генетическим подтверждением диагноза. В мировой практике проведено множество пилотных проектов скрининга новорождённых на МДД с применением различных аналитических подходов, включая флуоресцентный и иммунофлуоресцентный анализ КФК для выявления пациентов группы повышенного риска, а также применение молекулярно-генетических методов для подтверждения диагноза. В данной работе представлен обзор истории развития и текущего состояния программ скрининга на МДД в разных странах мира, а также ключевые этические и психологические аспекты досимптоматической диагностики МДД.

Участие авторов

Участие авторов:Воронин С.В. — разработка концепции и структуры обзора, научное редактирование текста;Мухортова А.А. — сбор и анализ данных, интерпретация результатов, написание разделов обзора;Слабикова А.А. — разработка концепции и структуры обзора, анализ литературы по теме, написание разделов обзора;Омельяновский В.В. — научное редактирование текста.Все соавторы — утверждение окончательного варианта статьи, ответственность за целостность всех частей статьи.

Финансирование

Финансирование. Исследование не имело спонсорской поддержки.

Конфликт интересов

Конфликт интересов. Авторы заявляют об отсутствии конфликта интересов.

Поступила 03

Поступила 03.11.2025Принята к печати 01.12.2025Опубликована 31.01.2026

Duchenne muscular dystrophy (DMD) is one of the most severe and common hereditary neuromuscular disorders characterized by progressive degeneration of muscle tissue, loss of motor function, and early mortality. Despite the availability of certain therapeutic options, disease outcomes largely depend on the timing of diagnosis and the initiation of clinical following-up. One of the most promising approaches to early detection is neonatal screening based on the measurement of creatine phosphokinase (CK) activity in dried blood spot samples, followed by genetic confirmation of the diagnosis. Numerous pilot newborn screening projects for DMD have been conducted worldwide using various analytical approaches, including fluorescent and immunofluorescent CK assays, as well as molecular genetic methods for diagnostic confirmation. This paper provides an overview of the history and current status of DMD screening programs in different countries, as well as key ethical and psychological aspects of presymptomatic diagnosis.

Contribution

Contribution:Voronin S.V. — concept and design, editing;Mukhortova P.A. — writing the text, editing;Slabikova A.A. — concept and design, writing the text, editing;Omelyanovskiy V.V. — editing.All co-authors — approval of the final version of the manuscript, responsibility for the integrity of all parts of the manuscript.

Funding

Funding. The study had no sponsorship.

Conflict of interest

Conflict of interest. The authors declare no conflict of interest.

Received

Received: November 03, 2025Accepted: December 01, 2025Published: January 31, 2026

мышечная дистрофия Дюшеннанеонатальный скринингкреатинфосфокиназаиммунофлуоресцентный анализгенетическая диагностикаDuchenne muscular dystrophyneonatal screeningcreatine phosphokinaseimmunofluorescent analysisgenetic diagnosisReferencesКлинические рекомендации № 773 «Прогрессирующая мышечная дистрофия Дюшенна. Прогрессирующая мышечная дистрофия Беккера» (КР 773); 2023.Clinical Guidelines No. 773 «Progressive Duchenne Muscular Dystrophy. Progressive Becker Muscular Dystrophy» (CG 773); 2023.Dubowitz V. Screening for Duchenne muscular dystrophy. Arch. Dis. Child. 1976; 51(4): 249–51. https://doi.org/10.1136/adc.51.4.249Dubowitz V. Screening for Duchenne muscular dystrophy. Arch. Dis. Child. 1976; 51(4): 249–51. https://doi.org/10.1136/adc.51.4.249Timonen A., Lloyd-Puryear M., Hougaard D.M., Meriö L., Mäkinen P., Laitala V., et al. Duchenne muscular dystrophy newborn screening: evaluation of a new GSP® neonatal creatine kinase-MM Kit in a US and Danish population. Int. J. Neonatal. Screen. 2019; 5(3): 27. https://doi.org/10.3390/ijns5030027Timonen A., Lloyd-Puryear M., Hougaard D.M., Meriö L., Mäkinen P., Laitala V., et al. Duchenne muscular dystrophy newborn screening: evaluation of a new GSP® neonatal creatine kinase-MM Kit in a US and Danish population. Int. J. Neonatal. Screen. 2019; 5(3): 27. https://doi.org/10.3390/ijns5030027Zellweger H., Antonik A. Newborn screening for Duchenne muscular dystrophy. Pediatrics. 1975; 55(1): 30–4.Zellweger H., Antonik A. Newborn screening for Duchenne muscular dystrophy. Pediatrics. 1975; 55(1): 30–4.Drummond L.M. Creatine phosphokinase levels in the newborn and their use in screening for Duchenne muscular dystrophy. Arch. Dis. Child. 1979; 54(5): 362–6. https://doi.org/10.1136/adc.54.5.362Drummond L.M. Creatine phosphokinase levels in the newborn and their use in screening for Duchenne muscular dystrophy. Arch. Dis. Child. 1979; 54(5): 362–6. https://doi.org/10.1136/adc.54.5.362Skinner R., Emery A.E., Scheuerbrandt G., Syme J. Feasibility of neonatal screening for Duchenne muscular dystrophy. J. Med. Genet. 1982; 19(1): 1–3. https://doi.org/10.1136/jmg.19.1.1Skinner R., Emery A.E., Scheuerbrandt G., Syme J. Feasibility of neonatal screening for Duchenne muscular dystrophy. J. Med. Genet. 1982; 19(1): 1–3. https://doi.org/10.1136/jmg.19.1.1Scheuerbrandt G., Lundin A., Lövgren T., Mortier W. Screening for Duchenne muscular dystrophy: an improved screening test for creatine kinase and its application in an infant screening program. Muscle Nerve. 1986; 9(1): 11–23. https://doi.org/10.1002/mus.880090103Scheuerbrandt G., Lundin A., Lövgren T., Mortier W. Screening for Duchenne muscular dystrophy: an improved screening test for creatine kinase and its application in an infant screening program. Muscle Nerve. 1986; 9(1): 11–23. https://doi.org/10.1002/mus.880090103Greenberg C.R., Rohringer M., Jacobs H.K., Averill N., Nylen E., van Ommen G.J., et al. Gene studies in newborn males with Duchenne muscular dystrophy detected by neonatal screening. Lancet. 1988; 2(8608): 425–7. https://doi.org/10.1016/s0140-6736(88)90414-xGreenberg C.R., Rohringer M., Jacobs H.K., Averill N., Nylen E., van Ommen G.J., et al. Gene studies in newborn males with Duchenne muscular dystrophy detected by neonatal screening. Lancet. 1988; 2(8608): 425–7. https://doi.org/10.1016/s0140-6736(88)90414-xDrousiotou A., Ioannou P., Georgiou T., Mavrikiou E., Christopoulos G., Kyriakides T., et al. Neonatal screening for Duchenne muscular dystrophy: a novel semiquantitative application of the bioluminescence test for creatine kinase in a pilot national program in Cyprus. Genet. Test. 1998; 2(1): 55–60. https://doi.org/10.1089/gte.1998.2.55Drousiotou A., Ioannou P., Georgiou T., Mavrikiou E., Christopoulos G., Kyriakides T., et al. Neonatal screening for Duchenne muscular dystrophy: a novel semiquantitative application of the bioluminescence test for creatine kinase in a pilot national program in Cyprus. Genet. Test. 1998; 2(1): 55–60. https://doi.org/10.1089/gte.1998.2.55Eyskens F., Philips E.G.P. Newborn screening for Duchenne muscular dystrophy. The experience in the province of Antwerp. Neuromuscul. Disord. 2006; 16(9): 721.Eyskens F., Philips E.G.P. Newborn screening for Duchenne muscular dystrophy. The experience in the province of Antwerp. Neuromuscul. Disord. 2006; 16(9): 721.Parsons E.P., Clarke A.J., Hood K., Lycett E., Bradley D.M. Newborn screening for Duchenne muscular dystrophy: a psychosocial study. Arch. Dis. Child Fetal. Neonatal. Ed. 2002; 86(2): F91–5. https://doi.org/10.1136/fn.86.2.f91Parsons E.P., Clarke A.J., Hood K., Lycett E., Bradley D.M. Newborn screening for Duchenne muscular dystrophy: a psychosocial study. Arch. Dis. Child Fetal. Neonatal. Ed. 2002; 86(2): F91–5. https://doi.org/10.1136/fn.86.2.f91van Ommen G.J., Scheuerbrandt G. Neonatal screening for muscular dystrophy. Consensus recommendation of the 14th workshop sponsored by the European Neuromuscular Center (ENMC). Neuromuscul. Disord. 1993; 3(3): 231–9. https://doi.org/10.1016/0960-8966(93)90065-rvan Ommen G.J., Scheuerbrandt G. Neonatal screening for muscular dystrophy. Consensus recommendation of the 14th workshop sponsored by the European Neuromuscular Center (ENMC). Neuromuscul. Disord. 1993; 3(3): 231–9. https://doi.org/10.1016/0960-8966(93)90065-rMoat S.J., Bradley D.M., Salmon R., Clarke A., Hartley L. Newborn bloodspot screening for Duchenne muscular dystrophy: 21 years experience in Wales (UK). Eur. J. Hum. Genet. 2013; 21(10): 1049–53. https://doi.org/10.1038/ejhg.2012.301Moat S.J., Bradley D.M., Salmon R., Clarke A., Hartley L. Newborn bloodspot screening for Duchenne muscular dystrophy: 21 years experience in Wales (UK). Eur. J. Hum. Genet. 2013; 21(10): 1049–53. https://doi.org/10.1038/ejhg.2012.301Mendell J.R., Shilling C., Leslie N.D., Flanigan K.M., al-Dahhak R., Gastier-Foster J., et al. Evidence-based path to newborn screening for Duchenne muscular dystrophy. Ann. Neurol. 2012; 71(3): 304–13. https://doi.org/10.1002/ana.23528Mendell J.R., Shilling C., Leslie N.D., Flanigan K.M., al-Dahhak R., Gastier-Foster J., et al. Evidence-based path to newborn screening for Duchenne muscular dystrophy. Ann. Neurol. 2012; 71(3): 304–13. https://doi.org/10.1002/ana.23528Tavakoli N.P., Gruber D., Armstrong N., Chung W.K., Maloney B., Park S., et al. Newborn screening for Duchenne muscular dystrophy: A two-year pilot study. Ann. Clin. Transl. Neurol. 2023; 10(8): 1383–96. https://doi.org/10.1002/acn3.51829Tavakoli N.P., Gruber D., Armstrong N., Chung W.K., Maloney B., Park S., et al. Newborn screening for Duchenne muscular dystrophy: A two-year pilot study. Ann. Clin. Transl. Neurol. 2023; 10(8): 1383–96. https://doi.org/10.1002/acn3.51829Lee B.H., Deng S., Chiriboga C.A., Kay D.M., Irumudomon O., Laureta E., et al. Newborn screening for spinal muscular atrophy in New York state: clinical outcomes from the first 3 years. Neurology. 2022; 99(14): e1527–37. https://doi.org/10.1212/WNL.0000000000200986Lee B.H., Deng S., Chiriboga C.A., Kay D.M., Irumudomon O., Laureta E., et al. Newborn screening for spinal muscular atrophy in New York state: clinical outcomes from the first 3 years. Neurology. 2022; 99(14): e1527–37. https://doi.org/10.1212/WNL.0000000000200986Kucera K., Boyea M.B., Migliore B., Robles V., Cope H., Rehder C., et al. P497: Two years of newborn screening for Duchenne muscular dystrophy in North Carolina: Results from early check. Genet. Med. Open. 2023; 1(1 Suppl.): 100544. https://doi.org/10.1016/j.gimo.2023.100544Kucera K., Boyea M.B., Migliore B., Robles V., Cope H., Rehder C., et al. P497: Two years of newborn screening for Duchenne muscular dystrophy in North Carolina: Results from early check. Genet. Med. Open. 2023; 1(1 Suppl.): 100544. https://doi.org/10.1016/j.gimo.2023.100544Kucera K.S., Boyea B.L., Migliore B., Potter S.N., Robles V.R., Kutsa O., et al. Two years of newborn screening for Duchenne muscular dystrophy as a part of the statewide Early Check research program in North Carolina. Genet. Med. 2024; 26(1): 101009. https://doi.org/10.1016/j.gim.2023.101009Kucera K.S., Boyea B.L., Migliore B., Potter S.N., Robles V.R., Kutsa O., et al. Two years of newborn screening for Duchenne muscular dystrophy as a part of the statewide Early Check research program in North Carolina. Genet. Med. 2024; 26(1): 101009. https://doi.org/10.1016/j.gim.2023.101009Ke Q., Zhao Z.Y., Griggs R., Wiley V., Connolly A., Kwon J., et al. Newborn screening for Duchenne muscular dystrophy in China: follow-up diagnosis and subsequent treatment. World J. Pediatr. 2017; 13(3): 197–201. https://doi.org/10.1007/s12519-017-0036-3Ke Q., Zhao Z.Y., Griggs R., Wiley V., Connolly A., Kwon J., et al. Newborn screening for Duchenne muscular dystrophy in China: follow-up diagnosis and subsequent treatment. World J. Pediatr. 2017; 13(3): 197–201. https://doi.org/10.1007/s12519-017-0036-3Jia X., Jiang X., Huang Y. A pilot study of newborn screening for Duchenne muscular dystrophy in Guangzhou. Heliyon. 2022; 8(10): e11071. https://doi.org/10.1016/j.heliyon.2022.e11071Jia X., Jiang X., Huang Y. A pilot study of newborn screening for Duchenne muscular dystrophy in Guangzhou. Heliyon. 2022; 8(10): e11071. https://doi.org/10.1016/j.heliyon.2022.e11071Jia C., Zhao D., Li Y., Gao Y., Zhang X., Li X., et al. Newborn screening and genomic analysis of Duchenne muscular dystrophy in Henan, China. Clin. Chim. Acta. 2023; 539: 90–6. https://doi.org/10.1016/j.cca.2022.11.024Jia C., Zhao D., Li Y., Gao Y., Zhang X., Li X., et al. Newborn screening and genomic analysis of Duchenne muscular dystrophy in Henan, China. Clin. Chim. Acta. 2023; 539: 90–6. https://doi.org/10.1016/j.cca.2022.11.024Jing M., Wang Y., Jing X.Y., Mao X.M. Screening for Duchenne muscular dystrophy in newborns in the Ningxia region. Zhongguo Dang Dai Er Ke Za Zhi. 2024; 26(3): 258–61. https://doi.org/10.7499/j.issn.1008-8830.2309151 (in Chinese)Jing M., Wang Y., Jing X.Y., Mao X.M. Screening for Duchenne muscular dystrophy in newborns in the Ningxia region. Zhongguo Dang Dai Er Ke Za Zhi. 2024; 26(3): 258–61. https://doi.org/10.7499/j.issn.1008-8830.2309151 (in Chinese)Chien Y.H., Lee N.C., Weng W.C., Chen L.C., Huang Y.H., Wu C.S., et al. Duchenne muscular dystrophy newborn screening: the first 50,000 newborns screened in Taiwan. Neurol. Sci. 2022; 43(7): 4563–6. https://doi.org/10.1007/s10072-022-06128-2Chien Y.H., Lee N.C., Weng W.C., Chen L.C., Huang Y.H., Wu C.S., et al. Duchenne muscular dystrophy newborn screening: the first 50,000 newborns screened in Taiwan. Neurol. Sci. 2022; 43(7): 4563–6. https://doi.org/10.1007/s10072-022-06128-2Parad R.B., Sheldon Y., Bhattacharjee A. Implementation of hospital-based supplemental Duchenne muscular dystrophy newborn screening (sDMDNBS): a pathway to broadening adoption. Int. J. Neonatal. Screen. 2021; 7(4): 77. https://doi.org/10.3390/ijns7040077Parad R.B., Sheldon Y., Bhattacharjee A. Implementation of hospital-based supplemental Duchenne muscular dystrophy newborn screening (sDMDNBS): a pathway to broadening adoption. Int. J. Neonatal. Screen. 2021; 7(4): 77. https://doi.org/10.3390/ijns7040077Ellis J.A., Vroom E., Muntoni F. 195th ENMC international workshop: Newborn screening for Duchenne muscular dystrophy 14-16th December, 2012, Naarden, The Netherlands. Neuromuscul. Disord. 2013; 23(8): 682–9. https://doi.org/10.1016/j.nmd.2013.05.008Ellis J.A., Vroom E., Muntoni F. 195th ENMC international workshop: Newborn screening for Duchenne muscular dystrophy 14-16th December, 2012, Naarden, The Netherlands. Neuromuscul. Disord. 2013; 23(8): 682–9. https://doi.org/10.1016/j.nmd.2013.05.008Fenton-May J., Bradley D.M., Sibert J.R., Smith R., Parsons E.P., Harper P.S., et al. Screening for Duchenne muscular dystrophy. Arch. Dis. Child. 1994; 70(6): 551–2. https://doi.org/10.1136/adc.70.6.551Fenton-May J., Bradley D.M., Sibert J.R., Smith R., Parsons E.P., Harper P.S., et al. Screening for Duchenne muscular dystrophy. Arch. Dis. Child. 1994; 70(6): 551–2. https://doi.org/10.1136/adc.70.6.551Cyrus A., Street N., Quary S., Kable J., Kenneson A., Fernhoff P. Clinic-based infant screening for Duchenne muscular dystrophy: a feasibility study. PLoS Curr. 2012; 4: e4f99c5654147a. https://doi.org/10.1371/4f99c5654147aCyrus A., Street N., Quary S., Kable J., Kenneson A., Fernhoff P. Clinic-based infant screening for Duchenne muscular dystrophy: a feasibility study. PLoS Curr. 2012; 4: e4f99c5654147a. https://doi.org/10.1371/4f99c5654147aCohen G., Shtorch-Asor A., Ben-Shachar S., Goldfarb-Yaacobi R., Kaiser M., Rosenfeld R., et al. Large scale population screening for Duchenne muscular dystrophy-Predictable and unpredictable challenges. Prenat. Diagn. 2022; 42(9): 1162–72. https://doi.org/10.1002/pd.6201Cohen G., Shtorch-Asor A., Ben-Shachar S., Goldfarb-Yaacobi R., Kaiser M., Rosenfeld R., et al. Large scale population screening for Duchenne muscular dystrophy-Predictable and unpredictable challenges. Prenat. Diagn. 2022; 42(9): 1162–72. https://doi.org/10.1002/pd.6201Singer A., Aartsma-Rus A., Grinshpun-Cohen J., Sagi-Dain L. Lessons learned from the first national population-based genetic carrier-screening program for Duchenne muscular dystrophy. Genet. Med. 2023; 25(12): 100981. https://doi.org/10.1016/j.gim.2023.100981Singer A., Aartsma-Rus A., Grinshpun-Cohen J., Sagi-Dain L. Lessons learned from the first national population-based genetic carrier-screening program for Duchenne muscular dystrophy. Genet. Med. 2023; 25(12): 100981. https://doi.org/10.1016/j.gim.2023.100981Crossnohere N.L., Armstrong N., Fischer R., Bridges J.F.P. Diagnostic experiences of Duchenne families and their preferences for newborn screening: A mixed-methods study. Am. J. Med. Genet. C Semin. Med. Genet. 2022; 190(2): 169–77. https://doi.org/10.1002/ajmg.c.31992Crossnohere N.L., Armstrong N., Fischer R., Bridges J.F.P. Diagnostic experiences of Duchenne families and their preferences for newborn screening: A mixed-methods study. Am. J. Med. Genet. C Semin. Med. Genet. 2022; 190(2): 169–77. https://doi.org/10.1002/ajmg.c.31992Ji C., Kariyawasam D.S., Sampaio H., Lorentzos M., Jones K.J., Farrar M.A. Newborn screening for Duchenne muscular dystrophy: the perspectives of stakeholders. Lancet Reg. Health West. Pac. 2024; 45: 101049. https://doi.org/10.1016/j.lanwpc.2024.101049Ji C., Kariyawasam D.S., Sampaio H., Lorentzos M., Jones K.J., Farrar M.A. Newborn screening for Duchenne muscular dystrophy: the perspectives of stakeholders. Lancet Reg. Health West. Pac. 2024; 45: 101049. https://doi.org/10.1016/j.lanwpc.2024.101049Bhattacharyya O., Campoamor N.B., Armstrong N., Freed M., Schrader R., Crossnohere N.L., et al. Assessing the benefits and harms associated with early diagnosis from the perspective of parents with multiple children diagnosed with Duchenne muscular dystrophy. Int. J. Neonatal. Screen. 2024; 10(2): 32. https://doi.org/10.3390/ijns10020032Bhattacharyya O., Campoamor N.B., Armstrong N., Freed M., Schrader R., Crossnohere N.L., et al. Assessing the benefits and harms associated with early diagnosis from the perspective of parents with multiple children diagnosed with Duchenne muscular dystrophy. Int. J. Neonatal. Screen. 2024; 10(2): 32. https://doi.org/10.3390/ijns10020032Bowman J.E. Screening newborn infants for Duchenne muscular dystrophy. BMJ. 1993; 306(6874): 349. https://doi.org/10.1136/bmj.306.6874.349Bowman J.E. Screening newborn infants for Duchenne muscular dystrophy. BMJ. 1993; 306(6874): 349. https://doi.org/10.1136/bmj.306.6874.349Parsons E.P., Clarke A.J., Hood K., Lycett E., Bradley D.M. Newborn screening for Duchenne muscular dystrophy: a psychosocial study. Arch. Dis. Child Fetal. Neonatal. Ed. 2002; 86(2): F91–5. https://doi.org/10.1136/fn.86.2.f91Parsons E.P., Clarke A.J., Hood K., Lycett E., Bradley D.M. Newborn screening for Duchenne muscular dystrophy: a psychosocial study. Arch. Dis. Child Fetal. Neonatal. Ed. 2002; 86(2): F91–5. https://doi.org/10.1136/fn.86.2.f91Chung J., Smith A.L., Hughes S.C., Niizawa G., Abdel-Hamid H.Z., Naylor E.W., et al. Twenty-year follow-up of newborn screening for patients with muscular dystrophy. Muscle Nerve. 2016; 53(4): 570–8. https://doi.org/10.1002/mus.24880Chung J., Smith A.L., Hughes S.C., Niizawa G., Abdel-Hamid H.Z., Naylor E.W., et al. Twenty-year follow-up of newborn screening for patients with muscular dystrophy. Muscle Nerve. 2016; 53(4): 570–8. https://doi.org/10.1002/mus.24880

The authors declare that there are no conflicts of interest present.