Spinal musculer atrophy and pregnancy: case report/Spinal muskuler atrofi ve gebelik: olgu sunumu

Citation metadata

Authors: Ayse Yasemin Karageyim Karsidag, Hasniye Celik Acioglu, Fatma Kilincoglu, Bulent Kars, Esra Esim Buyukbayrak and Meltem Pirimoglu
Date: May 2012
From: The Journal of Kartal Training and Research Hospital(Vol. 23, Issue 2)
Publisher: KARE Publishing
Document Type: Article
Length: 1,323 words

Main content

Abstract :

Spinal muscular atrophy (SMA) is a neuromuscular disorder Characterized by progressive proximal manifestation of muscle Weakness and atrophy. Spinal muscular atrophy is the second most common autosomal recessive disorder among Caucasians after cystic fibrosis, with estimated incidence of one in 10,000. SMA is characterized a by mutation in the survival motor neuron gene (SMN-1). Universal screening is not cost effective. For this reason, prenatal diagnosis is usually applied in high-risk couples and is based on the detection of homozygous deletion of the SMN-1 gene. Complications probable for the pregnant SMA patients include recurrent urinary tract infections, worsening pulmonary function, premature labor, prolonged labor, wheelchair seating with positioning problems, and musculoskeletal low back pain. We present a case of SMA that is complicated by preeclampsia. Key words: Pregnancy; preeclampsia; spinal musculer atrophy. Spinal muskuler atrofi (SMA), proksimal kaslarda ilerleyici tarzda gucsuzluk ve atrofi ile kendini gosteren noromuskuler bir hastaliktir. Insidansi 1/10000 olup kistik fibrozisten sonra beyazlarda en sik gorulen otozomal resesif hastaliktir. "Survival motor neuron" (SMN-1) geninde mutasyonla karakterizedir. Evrensel tarama maliyet etkin degildir. Bu nedenle prenatal tani genellikle yuksek riskli ciftlerde uygulanir ve SMN-1 genindeki homozigot delesyon tespitine dayanir. Gebe olan SMA hastalarini bekleyen komplikasyonlar arasinda tekrarlayan idrar yolu enfeksiyonlari, ilerleyici kotulesen solunum fonksiyonlari, preterm doGum, uzamis doGum eylemi, tekerlekli sandalye ve konumlandirma problemleri ve kas-iskelet bel aGrisi bulunmaktadir. Bu yazida preeklampsi ile komplike olan bir SMA olgusu sunuldu. Anahtar sozcukler: Gebelik; preeklampsi; spinal muskuler atrofi.

Source Citation

Source Citation
Karageyim Karsidag, Ayse Yasemin, et al. "Spinal musculer atrophy and pregnancy: case report/Spinal muskuler atrofi ve gebelik: olgu sunumu." The Journal of Kartal Training and Research Hospital, vol. 23, no. 2, 2012, p. 103+. Accessed 15 Jan. 2021.
  

Gale Document Number: GALE|A305562153