Skip to main content
Log in

Chronic childhood spinal muscular atrophy in Germany (West-Thüringen) — an epidemiological study

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

Abstract

This study presents the most extensive epidemiological data on chronic forms of spinal muscular atrophy in childhood (CSMA) in West-Thüringen in Germany. The incidence of CSMA was calculated to be 1 in 9,420 live births. The prevalence was 1.624 in 100,000 of the general population (as of 31 December 1980).

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

Access this article

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

Instant access to the full article PDF.

Similar content being viewed by others

References

  • Brzustowicz LM, Lehner T, Castilla LH, Penchaszadeh GK, Wilhelmsen KC, Daniels R, Davies KE, Leppert M, Ziter F, Wood D, Dubowitz V, Zerres K, Hausmanowa-Petrusewicz I, Ott J, Munsat TL, Gilliam TC (1990) Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2–13.3. Nature 344:540–541

    Google Scholar 

  • Bundey S, Lovelace RE (1975) A clinical and genetic study of chronic proximal spinal muscular atrophy. Brain 98:455–472

    Google Scholar 

  • Czeizel A, Hamula J (1989) A Hungarian study on Werdnig-Hoffmann disease. J Med Genet 26:762–763

    Google Scholar 

  • Emery AEH (1971) The nosology of the spinal muscle atrophies. J Med Genet 8:481–495

    Google Scholar 

  • Fried K, Mundel G (1977) High incidence of spinal muscular atrophy type I (Werdnig-Hoffmann disease) in the Karaite community in Israel. Clin Genet 12:250–251

    Google Scholar 

  • Gilliam TC, Brzustowicz LM, Castilla LH, Lehner T, Penchaszadeh GK, Daniels RJ, Byth BC, Knowies J, Hislop JE, Shapira Y, Dubowitz V, Munsat TL, Ott J, Davies KE (1990) Genetic homogeneity between acute and chronic forms of spinal muscular atrophy. Nature 345:823–825

    Google Scholar 

  • Hausmanowa-Petrusewicz I, Askanas W, Badurska B, Emeryk B, Fidzianska A, Garbalinska W, Hetnarska E, Jedrzejowska H, Kamieniecka Z, Niebroj-Dobosz I, Prot J, Sawicka E (1968) Infantile and juvenile spinal muscular atrophy. J Neurol Sci 6:263–287

    Google Scholar 

  • Ignatius J (1991) Population genetics of childhood-onset spinal muscular atrophy in Finland. Am J Hum Genet [Suppl] 49:472

    Google Scholar 

  • Mattei MG, Melki J, Bachelot MF, Abdelhak S, Burlet P, Frezal J, Munnich A (1991) In situ hybridization of two markers closely flanking the spinal muscular atrophy gene to 5q12-q13.3. Cytogenet Cell Genet 57:112–113

    Google Scholar 

  • Melki J, Abdelhak S, Shet P, Bachelot MF, Burlet P, Marcadet A, Aicardi A, Barois A, Carriere JP, Fardeau M, Fontan D, Ponsot A, Bilette T, Angelini C, Barbosa C, Ferriere G, Lanzi G, Ottolini A, Babron MC, Cohen D, Hanauer A, Clerget-Darpoux F, Lathrop M, Munnich A, Frezal GJ (1990a) Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q. Nature 344:767–768

    Google Scholar 

  • Melki J, Shet P, Abdelhak S, Bachelot MF, Burlet P, Lathrop GM, Munnich A (1990b) Acute Werdnig-Hoffmann disease (type I) maps to chromsome 5q12–5q14. Lancet 336:271–273

    Google Scholar 

  • Mostacciuolo MI, Danieli GA, Trevisan C, Müller E, Angelini C (1992) Epidemiology of spinal muscular atrophies in a sample of the Italian population. Neuroepidemiology 11:34–38

    Google Scholar 

  • Müller B, Melki J, Burlet P, Clerget-Darpoux F (1992) Proximal spinal muscular atrophy (SMA) types II and III in the same sibship are not caused by different alleles at the SMA locus on 5q. Am J Hum Genet 50:892–895

    Google Scholar 

  • Munsat TL, Skerry L, Korf B, Pober B, Schapira Y, Gascon GG, Al-Rajeh SM, Dubowitz V, Davies K, Brzustowicz LM, Penchaszadeh GK, Gilliam TC (1990) Phenotypic heterogeneity of spinal muscular atrophy mapping to chromosome 5q11.2–5q13.3 (SMA 5q). Neurology 40:1831–1836

    Google Scholar 

  • Pascalet-Guidon MJ, Bois E, Feingold J, Mattei JF, Combes JC, Hamon C (1984) Cluster of acute infantile spinal muscular atrophy (Werdnig-Hoffmann disease) in a limited area of Reunion Island. Clin Genet 26:39–42

    Google Scholar 

  • Pearn JH (1973) The gene frequency of acute Werdnig-Hoffmann disease (SMA type I). A total population survey in north-east England. J Med Genet 10:260–265

    Google Scholar 

  • Pearn JH (1978) Incidence, prevalence and gene frequency studies of chronic childhood spinal muscular atrophy. J Med Genet 15:409–413

    Google Scholar 

  • Radhakrishnan K, Thacker AK, Maloo JC (1988) A clinical, epidemiological and genetic study of hereditary motor neuropathies in Benghazi, Libya. J Neurol 235:422–424

    Google Scholar 

  • Shet P, Abdelhak S, Bachelot MF, Burlet P, Masset M, Hillaire D, Clerget-Darpoux F, Frezal J, Lathrop GM, Munnich A, Melki J (1991) Linkage analysis in spinal muscular atrophy, by six closely flanking markers on chromosome 5. Am J Hum Genet 48:764–768

    Google Scholar 

  • Spiegler AWJ, Hausmanowa-Petrusewicz I, Borkowska J, Klopocka A (1990) Population data on acute infantile and chronic childhood spinal muscular atrophy in Warsaw. Hum Genet 85:211–214

    Google Scholar 

  • Thieme A, Mitulla B, Schulze F, Spiegler AWJ (1993) Epidemiological data on Werdnig-Hoffmann disease in Germany (WestThüringen). Hum Genet 91:295–297

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

About this article

Cite this article

Thieme, A., Mitulla, B., Schulze, F. et al. Chronic childhood spinal muscular atrophy in Germany (West-Thüringen) — an epidemiological study. Hum Genet 93, 344–346 (1994). https://doi.org/10.1007/BF00212036

Download citation

  • Received:

  • Revised:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00212036

Keywords

Navigation