Mehmet CANPOLAT, Hüseyin PER, Hakan GÜMÜŞ, Sefer KUMANDAŞ, Ayşe KAÇAR BAYRAM, Munis DUNDAR, Oğuzhan BAHADIR

Spinal Musküler Atrofi Olgularının Klinik Özellikleri

Giriş: Bu çalışmanın amacı spinal musküler atrofi (SMA) tanısı olan olguların klinik özelliklerini değerlendirmektir.Gereç ve Yöntem: Otuz sekiz çocuk hasta geriye dönük olarak değerlendirildi. Tüm hastalar Erciyes Üniversitesi Tıp Fakültesi, çocuk nörolojisi bölümünde takip edildi. SMA tanısı genetik incelemede survival motor nöron 1 genindeki homozigot delesyonların saptanmasıyla teyit edildi. Tüm hastaların ayrıntılı öyküleri, yenidoğan belirtileri, beslenme özellikleri, başvuru belirtileri, fizik muayeneleri, eşlik eden patolojileri, genetik özellikleri ve tedavi yöntemleri araştırıldı. Bulgular: Çalışma popülasyonu 19 erkek (%50) ve 19 kızdan (%50) oluşuyordu. Hastaların ortalama yaşı 26,9±25,7 ay (aralık: 3-96 ay) idi. Ortalama takip süresi 12,2±13,3 ay (aralık: 2-48 ay) idi. SMA sınıflamasına göre, 22 hasta (%57,8) tip1, 8 hasta (%21,1) tip-2 ve 8 hasta (%21,1) tip-3 idi. Yenidoğan solunum sıkıntısı, erken tanı yaşı, beslenme problemleri, tekrarlayan akciğer hastalıkları kötü prognostik faktörler olarak tespit edildi.Sonuç: SMA multidisipliner tıbbi bakım yaklaşımı gerektiren bir nöromusküler hastalıktır. Klinik şiddetinin çok geniş bir yelpazesi vardır. Kötü prognostik faktörlerin saptanması, SMA'lı çocukların yakından takibi ve zamanında tedavilerinin yapılması açısından yol gösterici olacaktır

Clinical Characteristics of Cases with Spinal Muscular Atrophy

Introduction: The aim of this study is was to evaluate the clinical features of cases with diagnosis of spinal muscular atrophy (SMA).Materials and Methods: Thirty-eight pediatric patients were evaluated retrospectively. All patients were followed in the Pediatric Neurology Department of Erciyes University Faculty of Medicine. The diagnosis of patients had been confirmed by genetic analysis of homozygous deletions of survival motor neuron 1 gene. Detailed history, newborn symptoms, nutritional characteristics, initial complaints, physical examination, concomitant pathologies, genetic characteristics, and treatment modalities were investigated in all patients. Results: The study population consisted of 19 boys (50%) and 19 girls (50%). The mean age of patients was 26.9±25.7 months (range: 3-96 months). The mean follow-up period was 12.2±13.3 months (range: 2-48 months). According to SMA classification, 22 patients (57.8%) were type 1, 8 patients (21.1%) were type 2, and 8 patients were (21.1%) type 3. Neonatal respiratory distress, age at early diagnosis, nutritional problems, and recurrent lung diseases were detected as poor prognostic factors.Conclusions: SMA is a neuromuscular disease that requires multidisciplinary approach to medical care. There is a wide range of clinical severity. Identification of poor prognostic factors will help in terms of guiding close monitoring and timely treatments of children with SMA

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