Spinal muskuler atrofi ve gebelik: Olgu sunumu

Spinal muskuler atrofi (SMA), proksimal kaslarda ilerleyici tarzda güçsüzlük ve atrofi ile kendini gösteren nöromüsküler bir hastalýktýr. Ýnsidansý 1/10000 olup kistik fibrozisten sonra beyazlarda en sýk görülen otozomal resesif hastalýktýr. “Survival motor neuron” (SMN-1) geninde mutasyonla karakterizedir. Evrensel tarama maliyet etkin deðildir. Bu nedenle prenatal taný genellikle yüksek riskli çiftlerde uygulanýr ve SMN-1 genindeki homozigot delesyon tespitine dayanýr. Gebe olan SMA hastalarýný bekleyen komplikasyonlar arasýnda tekrarlayan idrar yolu enfeksiyonlarý, ilerleyici kötüleþen solunum fonksiyonlarý, preterm doðum, uzamýþ doðum eylemi, tekerlekli sandalye ve konumlandýrma problemleri ve kas-iskelet bel aðrýsý bulunmaktadýr. Bu yazýda preeklampsi ile komplike olan bir SMA olgusu sunuldu.

Spinal musculer atrophy and pregnancy: Case report

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.