Brazilian Registry of 5q-Spinal Muscular Atrophy
Author Information
Author(s): Mendonça Rodrigo Holanda, Godoi Juliane Suellen Arndt de, Zanoteli Edmar
Primary Institution: Universidade de São Paulo, Faculdade de Medicina, Departamento de Neurologia
Hypothesis
To describe the key demographic, clinical and genetic characteristics, as well as natural history data of patients with SMA-5q.
Conclusion
There is still a substantial diagnostic delay, especially in those patients with types 2 and 3 SMA-5q, but the study demonstrated prolonged survival, especially in type 1 patients.
Supporting Evidence
- 706 patients with confirmed genetic diagnosis of SMA-5q participated in the study.
- 42% of patients had type 1 SMA-5q, 33% had type 2, and 23% had type 3.
- 94.4% of patients had a homozygous SMN1-exon 7 deletion.
- Median survival of type 1 patients without invasive ventilation was 27 months.
- 54.4% of patients had access to disease-modifying therapy.
Takeaway
This study looked at patients with a type of muscle disease called SMA-5q in Brazil and found that many people wait a long time to get diagnosed, but those with the most severe form are living longer now.
Methodology
Patients or their parents completed a self-reported questionnaire on natural history, genetic characteristics, drug treatments, and multidisciplinary care.
Potential Biases
Potential for interviewer and social desirability bias, as well as recall bias regarding the timing of symptom onset and diagnosis.
Limitations
The study relied on self-reported data, which may introduce bias, and the registry may not represent the entire Brazilian population.
Participant Demographics
Patients were primarily from the Southeastern region of Brazil, with a similar gender distribution across types.
Statistical Information
P-Value
p<0.05
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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