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

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

A Thieme et al. Hum Genet. 1993 Apr.

Abstract

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 10,202 live births. The prevalence was 1 in 595,362 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.

PubMed Disclaimer

Similar articles

• Chronic childhood spinal muscular atrophy in Germany (West-Thüringen)--an epidemiological study.
  Thieme A, Mitulla B, Schulze F, Spiegler AW. Thieme A, et al. Hum Genet. 1994 Mar;93(3):344-6. doi: 10.1007/BF00212036. Hum Genet. 1994. PMID: 8125489
• Population data on acute infantile and chronic childhood spinal muscular atrophy in Warsaw.
  Spiegler AW, Hausmanowa-Pertrusewicz I, Borkowska J, Kłopocka A. Spiegler AW, et al. Hum Genet. 1990 Jul;85(2):211-4. doi: 10.1007/BF00193198. Hum Genet. 1990. PMID: 2370051
• A hungarian study on Werdnig-Hoffmann disease.
  Czeizel A, Hamula J. Czeizel A, et al. J Med Genet. 1989 Dec;26(12):761-3. doi: 10.1136/jmg.26.12.761. J Med Genet. 1989. PMID: 2614795 Free PMC article.
• [Heart involvement in progressive spinal muscular atrophy. A review of the literature and case histories in childhood].
  Distefano G, Sciacca P, Parisi MG, Parano E, Smilari P, Marletta M, Fiumara A. Distefano G, et al. Pediatr Med Chir. 1994 Mar-Apr;16(2):125-8. Pediatr Med Chir. 1994. PMID: 8078785 Review. Italian.
• Spinal muscular atrophy.
  Iannaccone ST. Iannaccone ST. Semin Neurol. 1998;18(1):19-26. doi: 10.1055/s-2008-1040858. Semin Neurol. 1998. PMID: 9562664 Review.

Cited by

• Multisite Evaluation and Validation of a Sensitive Diagnostic and Screening System for Spinal Muscular Atrophy that Reports SMN1 and SMN2 Copy Number, along with Disease Modifier and Gene Duplication Variants.
  Milligan JN, Larson JL, Filipovic-Sadic S, Laosinchai-Wolf W, Huang YW, Ko TM, Abbott KM, Lemmink HH, Toivonen M, Schleutker J, Gentile C, Van Deerlin VM, Zhu H, Latham GJ. Milligan JN, et al. J Mol Diagn. 2021 Jun;23(6):753-764. doi: 10.1016/j.jmoldx.2021.03.004. Epub 2021 Mar 30. J Mol Diagn. 2021. PMID: 33798739 Free PMC article.
• Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review.
  Verhaart IEC, Robertson A, Wilson IJ, Aartsma-Rus A, Cameron S, Jones CC, Cook SF, Lochmüller H. Verhaart IEC, et al. Orphanet J Rare Dis. 2017 Jul 4;12(1):124. doi: 10.1186/s13023-017-0671-8. Orphanet J Rare Dis. 2017. PMID: 28676062 Free PMC article. Review.
• Evaluation of muscle strength and motor abilities in children with type II and III spinal muscle atrophy treated with valproic acid.
  Darbar IA, Plaggert PG, Resende MB, Zanoteli E, Reed UC. Darbar IA, et al. BMC Neurol. 2011 Mar 24;11:36. doi: 10.1186/1471-2377-11-36. BMC Neurol. 2011. PMID: 21435220 Free PMC article. Clinical Trial.
• Nonsense-mediated messenger RNA decay of survival motor neuron 1 causes spinal muscular atrophy.
  Brichta L, Garbes L, Jedrzejowska M, Grellscheid SN, Holker I, Zimmermann K, Wirth B. Brichta L, et al. Hum Genet. 2008 Mar;123(2):141-53. doi: 10.1007/s00439-007-0455-7. Epub 2008 Jan 3. Hum Genet. 2008. PMID: 18172693
• Apparent gene conversions involving the SMN gene in the region of the spinal muscular atrophy locus on chromosome 5.
  van der Steege G, Grootscholten PM, Cobben JM, Zappata S, Scheffer H, den Dunnen JT, van Ommen GJ, Brahe C, Buys CH. van der Steege G, et al. Am J Hum Genet. 1996 Oct;59(4):834-8. Am J Hum Genet. 1996. PMID: 8808598 Free PMC article.

References

1. 1. Neurology. 1990 Dec;40(12):1831-6 - PubMed
2. 1. J Med Genet. 1989 Dec;26(12):761-3 - PubMed
3. 1. Clin Genet. 1984 Jul;26(1):39-42 - PubMed
4. 1. Nature. 1990 Apr 5;344(6266):540-1 - PubMed
5. 1. J Neurol Sci. 1968 Mar-Apr;6(2):269-87 - PubMed

MeSH terms