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Functional and Structural Changes in Patients with Spinal Muscular Atrophy Treated in Poland during 12-Month
Aleksandra Bieniaszewska1,2, Magdalena Sobieska3, Ewa Gajewska1
1Department of Developmental Neurology, Poznan University of Medical Sciences, 60-355 Poznan, Poland.
Journal of Clinical Medicine
|July 27, 2024
Summary
Modern therapies improve motor function in spinal muscular atrophy (SMA) patients, though structural issues persist. Regular monitoring of both function and structural changes is crucial for effective SMA patient care.
Area of Science:
- Neurology
- Pediatrics
- Rehabilitation Medicine
Background:
- Spinal muscular atrophy (SMA) diagnosis and treatment have advanced, altering the disease's clinical presentation.
- New phenotypes (non-sitters, sitters, walkers) reflect functional levels, but structural disorders like scoliosis remain common.
- Structural disorders significantly impact motor skill acquisition in SMA patients.
Purpose of the Study:
- To compare structural and functional changes over 12 months in SMA patients receiving modern therapy.
- To assess the impact of current treatments on disease progression and patient functionality.
- To highlight the importance of monitoring structural and functional status in SMA management.
Main Methods:
- A 12-month follow-up study involving 34 SMA patients on modern therapies.
- Utilized structural measurements and validated scales: CHOP-INTEND and HFMSE.
- Two assessment points, 12 months apart, to evaluate changes.
Main Results:
- Patients exhibited a trend toward functional improvement over the 12-month period.
- Structural changes showed a non-statistically significant deteriorating trend.
- Some patients reached maximum scores on scales, indicating no room for improvement on specific items.
Conclusions:
- Most SMA patients demonstrated overall improvement in motor function with modern therapies.
- Structural measurement assessment should be integrated into standard SMA patient evaluation.
- Continuous monitoring of both structural and functional aspects is vital for optimal SMA care.
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