Skip to main content
SpringerLink
Log in

Birth and population prevalence of Duchenne muscular dystrophy in the Netherlands

  • Original Investigations
  • Published:
Human Genetics Aims and scope Submit manuscript

Summary

Mutations causing Duchenne muscular dystrophy (DMD) have a short survival. Therefore, birth and population prevalence are maintained by new mutations. The present inventory was made to estimate the birth and population prevalence rates of DMD in the Netherlands. Seven methods of case identification were used. Data on 496 definite, probable or possible DMD patients born since 1961, or alive on January 1, 1983, were obtained. Several methods gave an estimated ascertainment of more than 95%. The prevalence rate at birth of DMD was estimated at 23.7×10−5 (1∶4215) male live births (MLB) yearly. The prevalence rate in the male population on January 1, 1983 was 5.4×10−5 (1∶18496). About 1% of the males in this study may have autosomal recessive Duchenne-like muscular dystrophy. Until now there has been no convincing evidence for geographic differences in DMD prevalence at birth. A list of frequency studies of Duchenne muscular dystrophy is included. The DMD mutation rate calculated by the indirect method is 7.9×10−5 genes per generation. However, this may well be an over-estimate, as this method does not account for germline mosaicism. Using a modified sex ratio method the proportion of sporadic DMD among all cases was estimated to be 0.106 (range 0–0.332). High frequency of germline mosaicism in DMD is a likely cause for the apparent lack of sporadic cases as found in previous studies, if mutation rates in male and female gametes are equal. Therefore, methods for estimating the proportion of new mutants in DMD should take germline mosaicism into account. The modified sex ratio method allows incorporation of data on germline mosaicism if available.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  • Adkins G, Birchley N, Bourne P (1978) Pseudohypertrophic muscular dystrophy of childhood in Queensland. University of Queensland, report 146

  • Bakker E, Hofker MH, Goor N, Mandel JL, Wrogemann K, Davies KE, Kunkel LM, Willard HF, Fenton WA, Sandkuyl L, Majoor-Krakauer D, Essen AJ van, Jahoda MGJ, Sachs EH, Ommen GJB van, Pearson PL (1985) Prenatal diagnosis and carrier detection of Duchenne muscular dystrophy with closely linked RFLPs. Lancet I:655–658

    Google Scholar 

  • Bakker E, Veenema H, Den Dunnen JT, Broeckhoven C van, Grootscholten PM, Bonten EJ, Ommen GJB van, Pearson PL (1989) Germinal mosaicism increases the recurrence risk for ‘new’ Duchenne muscular dystrophy mutations. J Med Genet 26:553–559

    Google Scholar 

  • Barbujani G, Russo A, Danieli GA, Spiegler AWJ, Borkowska J, Hausmanowa-Petrusewicz I (1990) Segregation analysis of 1885 DMD families: significant departure from the expected proportion of sporadic cases. Hum Genet 84:522–526

    Google Scholar 

  • Becker PE (1980) Epidemiology of Duchenne muscular dystrophy in South-West Germany. In: Angelini C, Danieli GA, Fontari D (eds) Muscular dystrophy research. Advances and new trends. Excerpta Medica, Amsterdam, pp 149–156

    Google Scholar 

  • Becker PE, Lenz F (1955) Zur Schätzung der Mutationsrate der Muskeldystrophien. Z Menschl Vererbung Konstitutionslehre 33:42–56

    Google Scholar 

  • Bertolotto A, De Marchi M, Doriguzzi C, Mongini T, Monnier C, Palmucci L, Schiffer D, Verze L (1981) Epidemiology of Duchenne muscular dystrophy in the province of Turin. Ital J Neurol Sci 2:81–84

    Google Scholar 

  • Besane D, Lanzi G, Ottolini A, Gamba N, Zambrino CA (1980) Epidemiologica della distrofia musculare progressiva di Duchenne nella provincia di Pavia. Atti del II Convegno Nazionale di Neuroepidemiologia, Milano 12–13 December 1980, pp 73–75

  • Blyth H, Pugh RJ (1959) Muscular dystrophy in childhood. The genetic aspects. Ann Hum Genet 23:127–163

    Google Scholar 

  • Bröcker-Vriends AH, Rosendaal FR, Houwelingen JC van, Bakker E, Ommen GJB van, Kamp JJP van de, Briët E (1991) Sex ratio of the mutation frequencies in hemophilia A: coagulation assays and RFLP analysis. J Med Genet 28:672–680

    Google Scholar 

  • Brooke MH, Griggs RC, Mendell JR, Fenichel GM, Shumate JB, Pellegrino RJ (1981) Clinical trial in Duchenne dystrophy. I. The design of the protocol. Muscle Nerve 4:186–197

    Google Scholar 

  • Brooks AP, Emery AEH (1977) The incidence of muscular dystrophy in the South-East of Scotland. Clin Genet 11:290–294

    Google Scholar 

  • Bundey S (1981) A genetic study of Duchenne muscular dystrophy in the West Midlands. J Med Genet 18:1–7

    Google Scholar 

  • Centraal Bureau voor de Statistiek (1987) Mndstat bevolk (CBS) 9:32

    Google Scholar 

  • Cowan J, Macdessi J, Stark A, Morgan G (1980) Incidence of Duchenne muscular dystrophy in New South Wales and the Australian Capital Territory. J Med Genet 17:245–249

    Google Scholar 

  • Danieli GA (1984) Studies on the prevalence of the Duchenne muscular dystrophy genotype at birth. In: Ten Kate LP, Pearson PL, Stadhouders AM (eds) Muscular dystrophy research. Advances and new trends. Excerpta Medica, Amsterdam, pp 17–33

    Google Scholar 

  • Danieli GA, Barbujani G (1984) Duchenne muscular dystrophy. Frequency of sporadic cases. Hum Genet 67:252–256

    Google Scholar 

  • Danieli GA, Mostacciuolo ML, Bonfante A, Angelini C (1977) Duchenne muscular dystrophy. A population study. Hum Genet 35:225–231

    Google Scholar 

  • Danieli GA, Mostacciuolo ML, Pilotto G, Angelini C, Bonfante A (1980) Duchenne muscular dystrophy. Data from family studies. Hum Genet 54:63–68

    Google Scholar 

  • Davie AM, Emery AEH (1978) Estimation of proportion of new mutants among cases of Duchenne muscular dystrophy. J Med Genet 15:339–345

    Google Scholar 

  • Dellamonica C, Collombel C, Cotte J, Addis P (1983) Screening for neonatal Duchenne muscular dystrophy by bioluminescence measurement of creatine kinase in a blood sample spotted on paper. Clin Chem 29:161–163

    Google Scholar 

  • Drummond LM (1979) Creatine phosphokinase levels in the newborn and their use in screening for Duchenne muscular dystrophy. Arch Dis Child 54:362–366

    Google Scholar 

  • Drummond LM, Veale AMO (1978) Muscular dystrophy screening. Lancet I:1258–1259

    Google Scholar 

  • Emery AEH (1986) Methodology in medical genetics. Churchill Livingstone, Edinburgh

    Google Scholar 

  • Emery AEH (1988) Duchenne muscular dystrophy. Oxford University Press, Oxford

    Google Scholar 

  • Essen AJ van, Abbs S, Baiget M, Bakker E, Boileau C, Broeckhoven C van, Bushby K, Clarke A, Claustres M, Covone AE, Ferrari M, Ferlini A, Galluzzi G, Grimm T, Grubben C, Jeanpierre M, Kääriäinen H, Liechti-Gallati S, Melis MA, Ommen GJB van, Poncin JE, Scheffer H, Schwartz M, Speer A, Stuhrmann M, Verellen-Dumoulin C, Wilcox DE, Ten Kate LP (1992) Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study. Hum Genet 88:249–257

    Google Scholar 

  • Ferrari E, Intino MT, Perniola T, Russo MG (1980) Epidemiology of Duchenne dystrophy and carrier detection in Puglia. Preliminary reports. In: Angelini C, Danieli GA, Fontari D (eds) Muscular dystrophy research. Advances and new trends. Excerpta Medica, Amsterdam, pp 264–265

    Google Scholar 

  • Fu WM, Barbujani G (1990) Segregation and sporadic cases of Duchenne muscular dystrophy in the Henan Province, China. Hum Hered 40:167–172

    Google Scholar 

  • Gardner-Medwin D (1970) Mutation rate in Duchenne type of muscular dystrophy. J Med Genet 7:334–337

    Google Scholar 

  • Gardner-Medwin D, Sharples P (1989) Some studies of the Duchenne and autosomal recessive types of muscular dystrophy. Brain Dev 11:91–97

    Google Scholar 

  • Greenberg CR, Jacobs HK, Halliday W, Wrogemann K (1991) Three year's experience with neonatal screening for Duchenne/Becker muscular dystrophy: gene analysis, gene expression, and phenotype prediction. Am J Med Genet 49:68–75

    Google Scholar 

  • Grimm T, Danieli GA, Müller CR (1988) Theoretical expectations for deletional mutations in Duchenne muscular dystrophy. Am J Med Genet 29:445–451

    Google Scholar 

  • Haldane JBS (1935) The rate of spontaneous mutation of a human gene. J Genet 35:317–326

    Google Scholar 

  • Kakulas BA, Hurse PV (1977) The muscular dystrophies: results of carrier detection and genetic counselling in Western Australia. Records of the Adelaide Children's Hospital 2:232–243

    Google Scholar 

  • Kanamori M, Morton NE, Fujiki K, Kondo K (1987) Genetic epidemiology of Duchenne muscular dystrophy in Japan: classical segregation analysis. Genet Epidemiol 4:425–432

    Google Scholar 

  • Karel ER, Te Meerman GJ, Ten Kate LP (1986) On the power to detect differences between male and female mutation rates for Duchenne muscular dystrophy, using classical segregation analysis and restriction fragment length polymorphisms. Am J Hum Genet 38:827–840

    Google Scholar 

  • Kate LP ten (1977) Cystic fibrosis in the Netherlands. Int J Epidemiol 6:23–34

    Google Scholar 

  • Kate LP ten (1984) The significance of new mutations for the genetic epidemiology of Duchenne muscular dystrophy. In: Kate LP ten, Pearson PL, Stadhouders AM (eds) Muscular dystrophy research. Advances and new trends. Excerpta Medica, Amsterdam, pp 3–6

    Google Scholar 

  • Kott E, Golan A, Don R, Bornstein B (1973) Muscular dystrophy: The relative frequency in the different ethnic groups in Israel. Confin Neurol 35:177–185

    Google Scholar 

  • Kurland LT (1958) Descriptive epidemiology of selected neurologic and myopathic disorders with particular reference to a survey in Rochester, Minnesota. J Chron Dis 8:378–418

    Google Scholar 

  • Kuroiwa Y, Miyasaki T (1967) In: Milhorat AT (ed) Exploratory concepts in muscular dystrophy and related disorders. Excerpta Medica, Amsterdam, pp 98–102

    Google Scholar 

  • Lane RJM, Robinow M, Roses AD (1983) The genetic status of mothers of isolated cases of Duchenne muscular dystrophy. J Med Genet 20:1–11

    Google Scholar 

  • Lawrence EF, Brown B, Hopkins IJ (1973) Pseudohypertrophic muscular dystrophy of childhood. An epidemiological survey in Victoria. Austr NZ J Med 3:142–151

    Google Scholar 

  • Leth A, Wulff K, Corfitsen M, Elmgreen J (1985) Progressive muscular dystrophy in Denmark. Natural history, prevalence and incidence. Acta Paediatr Scand 74:881–885

    Google Scholar 

  • Lubs ML (1974) Hemophilia A and Duchenne muscular dystrophy in Colorado. Am J Hum Genet 26:56A

    Google Scholar 

  • Lucci B (1979) Incidence and prevalence rates of Duchenne muscular dystrophy in the province of Reggio Emilia. Acta Neurol 34:405–408

    Google Scholar 

  • Lucci B (1980) Incidence, prevalence and mutation rate of Duchenne muscular dystrophy in the province of Reggio Emilia. In: Angelini C, Danieli GA, Fontari D (eds) Muscular dystrophy research. Advances and new trends. Excerpta Medica, Amsterdam, pp 289–290

    Google Scholar 

  • Monckton G, Hoskin V, Warren S (1982) Prevalence and incidence of muscular dystrophy in Alberta, Canada. Clin Genet 21:19–24

    Google Scholar 

  • Morton NE, Chung CS (1959) Formal genetics of muscular dystrophy. Am J Hum Genet 11:360–379

    Google Scholar 

  • Moser H, Wiesmann U, Richterich R, Rossi E (1964) Progressive Muskeldystrophie. VI. Häufigkeit, Klinik und Genetik der Duchenne-Form. Schweiz Med Wochenschr 94:1610–1621

    Google Scholar 

  • Mostacciuolo ML, Lombardi A, Cambissa V, Danieli GA, Angelini C (1987) Population data on benign and severe forms of X-linked muscular dystrophy. Hum Genet 75:217–220

    Google Scholar 

  • Murphy EA, Cramer DW, Kryscio RJ, Brown CC, Pierce ER (1974) Gonadal mosaicism and genetic counseling for X-linked recessive lethals. Am J Hum Genet 26:207–222

    Google Scholar 

  • Nigro G, Comi LI, Limongelli FM, Giugliano MAM, Politano L, Petretta V, Passamano L, Stefanelli S (1983) Prospective study of X-linked progressive muscular dystrophy in Campania. Muscle Nerve 6:253–262

    Google Scholar 

  • Norman AM, Rogers C, Sibert JR, Harper PS (1989) Duchenne muscular dystrophy in Wales: a 15-year study, 1971–1986. J Med Genet 26:560–564

    Google Scholar 

  • Pearson ES, Hartley HO (1966) Biometrika tables for statisticians, vol I. Cambridge University Press, Cambridge

    Google Scholar 

  • Prot J (1971) Genetic-epidemiological studies in progressive muscular dystrophy. J Med Genet 8:90–96

    Google Scholar 

  • Rossi B, Siciliano G, Sartucci F, Bianchi F (1984) Epidemiology of progressive muscular dystrophy in north-western Tuscany. Acta Neurol 6:125–133

    Google Scholar 

  • Scheuerbrandt G, Lundin A, Lövgren T, Mortier W (1986) Screening for Duchenne muscular dystrophy: an improved screening test for creatine kinase and its application in an infant screening program. Muscle Nerve 9:11–23

    Google Scholar 

  • Skinner R, Emery AEH, Scheuerbrandt G, Syme J (1982) Feasibility of neonatal screening for Duchenne muscular dystrophy. J Med Genet 19:1–3

    Google Scholar 

  • Spiegler AWJ, Herrmann FH (1983) Erfassung und humangenetische Betreuung von Risikofamilien mit progressiver Muskel-dystrophie der Typen Duchenne (DMD) und Becker-Kiener (BMD) im Bezirk Erfurt. Dtsch Gesundh-Wes 38:994–1000

    Google Scholar 

  • Stephens FE, Tyler FH (1951) Studies on disorders of muscles. V. The inheritance of childhood progressive muscular dystrophy in 33 kindreds. Am J Hum Genet 22:231–234

    Google Scholar 

  • Stevenson AC (1958) Muscular dystrophy in Northern Ireland. IV. Some additional data. Ann Hum Genet 22:231–234

    Google Scholar 

  • Takeshita K, Yoshino K, Kitahara T, Nakashima T, Kato N (1977) Survey of Duchenne type and congenital type of muscular dystrophy in Shimane, Japan. Jpn J Hum Genet 22:43–47

    Google Scholar 

  • Takeshita K, Yoshino K, Hasegawa T (1978) Epidemiological study of muscular dystrophies in Tottori. J Yonago Med Ass 29:203–206

    Google Scholar 

  • Takeshita K, Kasagi S, Mito T, Tanaka T, Ootani K (1987) Decreased incidence of Duchenne muscular dystrophy in Western Japan 1956–1980. Neuroepidemiology 6:130–138

    Google Scholar 

  • Tangsrud SE, Halvorsen S (1989) Child neuromuscular disease in Southern Norway. The prevalence and incidence of Duchenne muscular dystrophy. Acta Paediatr Scand 78:100–103

    Google Scholar 

  • Vogel F, Motulsky AG (1982) Human genetics — problems and approaches. Springer, Berlin Heidelberg New York

    Google Scholar 

  • Walton JN (1955) On inheritance of muscular dystrophy. Ann Hum Genet 3:1–38

    Google Scholar 

  • Williams WR, Thompson MW, Morton NE (1983) Complex segregation analysis and computer-assisted genetic risk assessment for Duchenne muscular dystrophy. Am J Med Genet 14:315–333

    Google Scholar 

  • Yasuda N, Kondo K (1980) No sex difference in mutation rates of Duchenne muscular dystrophy. J Med Genet 17:106–111

    Google Scholar 

  • Zatz M, Passos-Bueno MR, Rappaport D (1989) Estimate of the proportion of Duchenne muscular dystrophy with autosomal recessive inheritance. Am J Med Genet 32:407–410

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Medical Genetics, University of Groningen, Antonius Deusinglaan 4, NL-9713, AW Groningen, The Netherlands

    Anthonie J. van Essen, Gerard J. te Meerman & Leo P. ten Kate

  2. Department of Neurology, Dijkzigt Hospital, Erasmus University, Rotterdam, The Netherlands

    H. F. M. Busch

Authors
  1. Anthonie J. van Essen
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. H. F. M. Busch
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Gerard J. te Meerman
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Leo P. ten Kate
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

van Essen, A.J., Busch, H.F.M., te Meerman, G.J. et al. Birth and population prevalence of Duchenne muscular dystrophy in the Netherlands. Hum Genet 88, 258–266 (1992). https://doi.org/10.1007/BF00197256

Download citation

  • Received:

  • Revised:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00197256

Keywords

Search

Navigation