TY - JOUR T1 - Familial Werding-Hoffmann: a rare incidence TT - بروز نادر خانوادگی وردینگ هافمن JF - RJMS JO - RJMS VL - 17 IS - 78 UR - http://rjms.iums.ac.ir/article-1-1608-en.html Y1 - 2010 SP - 53 EP - 57 KW - Werding-Hoffmann disease KW - Genetic marker of SMA KW - Familial incidence KW - Autosomal recessive inheritance N2 -   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. M3 ER -