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 Erciye...
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| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Galenos Publishing House
2016-04-01
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| Series: | Güncel Pediatri |
| Subjects: | |
| Online Access: | http://www.guncelpediatri.com/makale_10557/Spinal-Muskuler-Atrofi-Olgularinin-Klinik-Ozellikleri |
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| Summary: | 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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| ISSN: | 1304-9054 |