Volume 17, Issue 78 And 79 (12-2010)                   RJMS 2010, 17(78 And 79): 53-57 | Back to browse issues page

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Khalesi N, Keshavarz K, Rezakhani A. Familial Werding-Hoffmann: a rare incidence. RJMS. 2010; 17 (78 and 79) :53-57
URL: http://rjms.iums.ac.ir/article-1-1608-en.html
Yasooj University of Medical Sciences and Health Services
Abstract:   (11501 Views)

  Background: Werding-Hoffmann disease is a degenerative disease of motor neurons that begins in fetus and continues to be progressive in infancy and childhood. Most of them die by 2 years of age because of respiratory failure. The simplest and most accurate method of diagnosis is detection of serum genetic marker of SMA.

  Case report: In this article a neonate with Werding-Hoffmann disease is studied the importance being that the disease was detected in his parents by DNA analysis. The two previous siblings died during infancy because of respiratory failure and muscular weakness. There was also a positive family history of an abortion during the second trimester in other words an Autosomal Recessive (AR) disease affecting all of the 4 siblings.

  Conclusion: Werding-hoffmann is an AR disease with a rare familial incidence.

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Type of Study: case report | Subject: Pediatric Disease

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