Introduction:

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.

Objective:

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.

Results:

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.

Conclusion:

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

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