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     Neurologia i Neurochirurgia Polska  5/2006

     Opis przypadku
Pseudodominujące dziedziczenie rdzeniowego zaniku mięśni - ojciec i syn chorzy na SMA
Neurol Neurochirur Pol 2006; 40, 5: 446-449
     autorzy: Maria Jędrzejowska, Agnieszka Madej-Pilarczyk, Janusz Zimowski, Irena Hausmanowa-Petrusewicz,
Rdzeniowy zanik mięśni (SMA) jest chorobą genetycznie uwarunkowaną, dziedziczoną jako cecha autosomalna recesywna, związaną z mutacjami genu SMN1. Ze względu na typ dziedziczenia ryzyko powtórzenia się choroby w kolejnych pokoleniach jest małe i wynosi ok. 1%. W pracy przedstawiamy ojca i syna chorych na rdzeniowy zanik mięśni. Ojciec choruje od ok. 13. roku życia na łagodną postać SMA, u syna stwierdzono SMA2, z pierwszymi objawami ok. 13. mies. życia. Badania genetyczne u obu badanych wykazały obualleliczną delecję eksonu 7 i 8 w genie SMN1. Matka chłopca jest nosicielką delecji w locus SMA. Badania ilościowe wykazały u niej obecność jednej kopii genu SMN1.

Spinal muscular atrophy (SMA) is an autosomal recessive hereditary disorder caused by mutations of the SMN1 gene. Because of the autosomal recessive type of transmission, the genetic risk of the disease in the following generations is small and is estimated to be about 1%. Here we present a case report of a father and son suffering from SMA. The father is affected with a mild form of SMA, with onset at about 13 years of age. The son suffers from SMA type 2, with onset at about 13 months of age. In both father and son, genetic analysis showed biallelic deletion of exons 7 and 8 in the SMN1 gene. The boy's mother is a carrier of the deletion at the SMA locus. Quantitative analysis revealed one copy of the SMN1 gene.


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