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Pediatría (Asunción)

versão On-line ISSN 1683-9803


FRANCO TONANEZ, Carlos; GODOY SANCHEZ, Laura  e  CASARTELLI GALEANO, Marco. Clinical, epidemiological and genetic characterization of patients with spinal muscular atrophy: a series of 26 pediatric patients. Pediatr. (Asunción) [online]. 2021, vol.48, n.1, pp.44-50. ISSN 1683-9803.


Spinal Muscular Atrophy 5q (SMA 5q) is the most frequent form of spinal muscular atrophy and is related to the mutation of the SMN1 gene. It is classified into 4 types according to the age of presentation and the maximum motor achievement achieved.


To describe the clinical, epidemiological and genetic characteristics of pediatric patients with SMA 5q evaluated in the Neurology service of the Children’s General Hospital “Niños de Acosta Ñu”.

Materials and Methods:

This was an observational, descriptive, retrospective and cross-sectional study. Patients with a diagnosis of SMA from the Neurology Service of the Children’s General “Niños de Acosta Ñu”, from July 2013 to July 2017, were included. Variables: demographic data, symptoms, classification, genetic study, complications and evolution. Descriptive statistics were used. The research ethics committee determined informed consent was not required.


26 patients with a diagnosis of SMA 5q were included. 57.5% (15/26) were male. They consulted for: not walking (19.2%), respiratory distress and poor movement (19.2%). Types of SMA 5q: I 15/26 (57.7%), II 8/26 (30.7%) and III 3/26 (11.5%). Median age of clinical and genetic diagnosis: 6 months and 7.5 months respectively. The genetic alteration was homozygous deletion in exons 7 and 8 of the SMN1 gene. Most frequent complications: respiratory, nutritional and osteoarticular. Almost all received respiratory and motor physiotherapy plus nutritional support. None received specific modifying treatment. 12/15 of SMA type I died. The median age of death was 8 months.


a classic clinical, epidemiological and genetic pattern was found, with late clinical and genetic diagnosis.

Palavras-chave : Spinal muscular atrophy; children; epidemiology; clinical.

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