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Neonatal Screening for Muscular Dystrophy

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Neonatal Screening for Inborn Errors of Metabolism

Abstract

DMD is one of the most frequent hereditary diseases in childhood. About every 3000th to 5000th family has either a boy with DMD or a girl with carrier properties (Zellweger and Antonik 1975; Beckmann and Scheuerbrandt 1976; Emery 1977; Moser 1977; Danieli et al. 1977). DMD carriers who normally do not show clinical signs of the disease transmit DMD to 50% of their male offspring by passing on to the next generation a mutated gene located on one of their X chromosomes. Because of this sex-linked recessive mode of inheritance, DMD affects only boys. Theoretically, one-third of the DMD cases are caused by new mutations (Haldane 1935; Gardner-Medwin 1970). The rate of mutations is probably equal in both sexes (Vogel 1977). Danieli et al. (1977) and Pickard et al. (1978) suggested a lower percentage of spontaneous cases. Emery (1977) has analyzed in detail the genetics of DMD.

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References

  • Antonik A (1977, 1978) Method for the determination of creatine phosphokinase enzyme, US patents 4,001,088, 4,080,265

    Google Scholar 

  • Arnold H, Scheuerbrandt G, Beckmann R, Lohr GW (1978) Creatine kinase in human erythrocytes: A newly detected genetic anomaly in a clinically healthy family. Blut 37:249–256

    Article  PubMed  CAS  Google Scholar 

  • Association francaise contre la myopathie (1977) Le courrier de la myopathie. Issue 68, p 9

    Google Scholar 

  • Becker PE (1978) Genetische Beratung bei Myotonien und Muskeldystrophien. Internist 19:475–481

    PubMed  CAS  Google Scholar 

  • Beckmann R (1977) Myopathien. In: Keller W/Wiskott A, Lehrbuch der Kinderheilkunde. Wiskott A, Betke K, Künzer W (eds), 4th edn, Thieme, Stuttgart

    Google Scholar 

  • Beckmann R, Scheuerbrandt G (1976) Screening auf erhöhte CK-Aktivitäten zur Früherkennung der Duchenne-Muskeldystrophie. Ergebnis einer Studie an Blutproben von 16 520 Neugeborenen. Kinderarzt 7:1267–1272

    Google Scholar 

  • Beckmann R, Scheuerbrandt G (1977) Muskeldystrophie (Duchenne) — Früherkennung-CK-Screeningtest-Konsequenzen. Ergebnisse zweier Fragebogenaktionen. Kinderarzt 8:313–317

    Google Scholar 

  • Beckmann R, Teirich-Leube H (1970) Die progressiven Muskeldystrophien und Möglichkeiten ihrer Behandlung: Ther Ggw 109:485–507, 648–656

    PubMed  CAS  Google Scholar 

  • Beckmann R, Scheuerbrandt G, Antonik A, Antonik S (1974) Ein neuer Kreatinkinase-Test. Kinderarzt 5:731–733

    Google Scholar 

  • Beckmann R, Scheuerbrandt G, Beubl L (to be published) Identifizierung von Ãœberträgerinnen der Duchenne-Muskeldystrophie

    Google Scholar 

  • Bodensteiner J, Zellweger H (1971) Creatine phosphokinase in normal neonates and young infants. J Lab Clin Med 77:853

    PubMed  CAS  Google Scholar 

  • Chase GA, Murphy EA (1973) Risk of recurrence and carrier frequency for X-linked lethal recessives. Hum Hered 23:19–26

    Article  PubMed  CAS  Google Scholar 

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

    Article  PubMed  CAS  Google Scholar 

  • Dellamonica C (1978) Etude de la réaction couplée créatine-kinase/luciférine-luciférase. Application au dépistage systématique néonatal de la myopathie de Duchenne de Boulogne. PhD Thesis, University Lyon

    Google Scholar 

  • Dellamonica C, Robert JM, Cotte J, Collombel C, Dorche C (1978) Systematic neonatal screening for duchenne muscular dystrophy. Lancet 11:1100

    Article  Google Scholar 

  • Drummond LM, Veale AMO (1978) Muscular dystrophy screening. Lancet 1:1258–1259

    Article  PubMed  CAS  Google Scholar 

  • Dubowitz V (1976) Screening for Duchenne muscular dystrophy. Arch Dis Child 51:249–251

    Article  PubMed  CAS  Google Scholar 

  • Dubowitz V, van Iddekinge B, Rodeck CH, Campbell S, Singer JD, Scheuerbrandt G, Moss DW (1978) Prentatal diagnosis in duchenne muscular dystrophy: salvage of a normal male fetus. Lancet 1:90

    Article  PubMed  CAS  Google Scholar 

  • EAMDA (1978) European Alliance of Muscular Dystrophy Associations, Report 3:5–15, Recent advances in the study of neuromuscular diseases

    Google Scholar 

  • Emery AEH (1977) Genetic considerations in the X-linked muscular dystrophies. In: Rowland LP (ed) Pathogenesis of human muscular dystrophies. Exerpta Medica, Amsterdam Oxford, pp 42–58

    Google Scholar 

  • Emery AEH, Watt MS, Clack ER (1972) The effects of genetic counselling in Duchenne muscular dystrophy. Clin Genet 3:147–150

    Article  PubMed  CAS  Google Scholar 

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

    Article  PubMed  CAS  Google Scholar 

  • Gardner-Medwin D (1976) Duchenne muscular dystrophy: Early diagnosis and screening. Arch Dis Child 51:982–983

    Article  Google Scholar 

  • Gardner-Medwin D, Bundey S, Grenn S (1978) Early diagnosis of Duchenne muscular dystrophy. Lancet 1:1102

    Article  PubMed  CAS  Google Scholar 

  • Gilboa N, Swanson JR (1976) Serum creatine phosphokinase in normal newborns. Arch Dis Child 51:283–285

    Article  PubMed  CAS  Google Scholar 

  • Golbus MS, Stephens JD, Mahoney MJ, Hobbins JC, Haseltine FP, Caskey CT, Banker BO (to be published) Failure of fetal CPK to diagnose Duchenne’s muscular dystrophy. N Engl J Med

    Google Scholar 

  • Haldane JBS (1935) The rate of spontaneous mutations of a human gene. J Genetics 31:317–326

    Article  Google Scholar 

  • Heyck H, Laudahn G, Carsten PM (1966) Enzymaktivitätsbestimmungen bei Dystrophia musculorum progressiva. Klin Wochenschr 44:695

    Article  PubMed  CAS  Google Scholar 

  • Ionasescu V, Zellweger H, Shirk P, Conway TW (1973) Identification of carriers of Duchenne muscular dystrophy by muscle protein synthesis. Neurology 23:497–502

    PubMed  CAS  Google Scholar 

  • Ketelsen U-P (to be published) Differentialdiagnostische Bedeutung der Muskelbiopsie bei myogenen und neuromuskulären Erkrankungen: Lichtmikroskopisch-histochemische und elektronenmikroskopische Befunde. Monatsschr Kinderheilkd

    Google Scholar 

  • Lyon MF (1962) Sex chromatin and gene action in the mammalian X-chromosome. Am J Hum Genet 14:135

    PubMed  CAS  Google Scholar 

  • Mahoney MJ, Haseltine EP, Hobbins JC, Banker BO, Caskey CT, Golbus MS (1977) Prenatal diagnosis of Duchenne’s muscular dystrophy. N Engl J Med 297:968–973

    Article  PubMed  CAS  Google Scholar 

  • Moser H (1977) Heterozygotenerfassung und genetische Beratung bei der progressiven Muskeldystrophie Duchenne. Schweiz Rundschau Med (Praxis) 27:814–822

    Google Scholar 

  • Nicholson GA, Gardner-Medwin D, Pennington RJT, Walton JN (1979) Carrier detection in Duchenne muscular dystrophy: Assessment of the effect of age on detection-rate with serum-creatine-kinase-activity. Lancet 1:692–694

    Article  PubMed  CAS  Google Scholar 

  • Pickard NA, Gruemer H-D, Verril HL, Isaacs ER, Robinow M, Nance WE, Myers E, Goldsmith B (1978) Systemic membrane defect in the proximal muscular dystrophies. N Engl J Med 299:841–846

    Article  PubMed  CAS  Google Scholar 

  • Stengel-Rutkowski L, Scheuerbrandt G, Beckmann R, Pongratz D (1977) Prenatal diagnosis of Duchenne’s muscular dystrophy. Lancet 1:1359–1360

    Article  PubMed  CAS  Google Scholar 

  • Vogel F (1977) A probable sex difference in some mutation rates. Am J Hum Genet 29: 312–319

    PubMed  CAS  Google Scholar 

  • Zellweger H (1976) New Tasks: Prevention of handicap. Dev Med Child Neurol 18:3–10

    Article  PubMed  CAS  Google Scholar 

  • Zellweger H, Antonik A (1975) Newborn screening for Duchenne muscular dystrophy. Pediatrics 55:30–34

    PubMed  CAS  Google Scholar 

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Authors
  1. R. Beckmann
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  2. J. M. Robert
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  3. H. Zellweger
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  4. L. Beubl
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  5. C. Dellamonica
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  6. G. Scheuerbrandt
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Editor information

Editors and Affiliations

  1. Universitäts-Kinderklinik, Im Neuenheimer Feld 150, 6900, Heidelberg, Germany

    Horst Bickel  & Gerhard Hammersen  & 

  2. Department of Pediatrics, State University of New York at Buffalo, Childrens Hospital, Acheson Hall, Room 352, 3455 Main Street, Buffalo, N.Y., 14214, USA

    Robert Guthrie Ph.D., M.D. (Professor of Pediatrics and Microbiology) (Professor of Pediatrics and Microbiology)

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© 1980 Springer-Verlag Berlin Heidelberg

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Beckmann, R., Robert, J.M., Zellweger, H., Beubl, L., Dellamonica, C., Scheuerbrandt, G. (1980). Neonatal Screening for Muscular Dystrophy. In: Bickel, H., Guthrie, R., Hammersen, G. (eds) Neonatal Screening for Inborn Errors of Metabolism. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-67488-4_14

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  • DOI: https://doi.org/10.1007/978-3-642-67488-4_14

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-67490-7

  • Online ISBN: 978-3-642-67488-4

  • eBook Packages: Springer Book Archive

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