Human Genetics

, Volume 91, Issue 3, pp 295–297

Epidemiological data on Werdnig-Hoffmann disease in Germany (West-Thüringen)


  • Andrea Thieme
    • Abteilung Medizinische Genetik, Medizinische Hochschule Erfurt
  • Beate Mitulla
    • Abteilung Medizinische Genetik, Klinikum Suhl
  • Friedemann Schulze
    • Sozialpädiatrisches Zentrum der Kinderklinik, Medizinische Hochschule Erfurt
  • Aribert W. J. Spiegier
    • Abteilung Medizinische Genetik, Medizinische Hochschule Erfurt
Short Communications

DOI: 10.1007/BF00218278

Cite this article as:
Thieme, A., Mitulla, B., Schulze, F. et al. Hum Genet (1993) 91: 295. doi:10.1007/BF00218278


This study contains the largest body of epidemiological data on Werdnig-Hoffmann disease (acute infantile spinal muscular atrophy; ASMA) in West-Thüringen in Germany. The incidence of ASMA was calculated to be 1 in 10202 live births. The prevalence was 1 in 595362 of the general population (as of 31 December 1987). The study gives an unexpectedly high incidence rate confirming the suggestion that ASMA in Central and Eastern Europe might be more frequent than in Western Europe. However, we consider that this high incidence rate in West-Thüringen is a result of the almost complete ascertainment made possible because of the well-organised and centralised health system existing in Thüringen over the last few decades.

Copyright information

© Springer-Verlag 1993