Clinical Characterization of Patients With 5q Spinal Muscular Atrophy Types 2 and 3 in Brazil: A Cross-Sectional Observational Study
Diagnostic delays for spinal muscular atrophy in Brazil are significant but treatable—earlier detection would help patients benefit from available drugs.
This cross-sectional study characterizing 155 SMA types 2/3 patients at 9 Brazilian centers found significant diagnostic delays — especially in type 3 — and demonstrated that both disease duration and DMT use are critical determinants of motor function by HFMSE scoring. The data highlight the real-world burden of diagnostic delay in rare neuromuscular diseases in a middle-income country.
What the study was
- Study design
- Cross-sectional observational study (9 national reference centers)
- Population
- SMA types 2 and 3 patients in Brazilian Public Health System (SUS), 9 national reference centers, 2020–2021
- Sample size
- 155
- Category
- Public Health
- Maturity
- Exploratory
- Journal
- Clinical Genetics
Why it surfaced
Rare disease real-world data from Brazilian public health system documenting burden of diagnostic delay in SMA; relevant to global access to SMA screening and DMT. Cross-sectional limits longitudinal inference.
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