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Pain in Spinal Muscular Atrophy: A Questionnaire Study
Yuu Uchio1,2, Kota Kajima1, Hayato Suzuki1
1Department of Rehabilitation, Faculty of Health Sciences, University of Tokyo Health Sciences, Japan.
Physical Therapy Research
|February 23, 2023
Summary
Over 40% of spinal muscular atrophy (SMA) patients experience chronic pain, often daily and in the neck, back, or lower extremities. This pain is typically mild but frequent, impacting quality of life.
Area of Science:
- Neurology
- Pain Medicine
- Rare Diseases
Background:
- Spinal muscular atrophy (SMA) is a rare genetic neuromuscular disorder.
- Chronic pain is a significant but understudied symptom in SMA patients.
- Understanding pain prevalence and characteristics is crucial for patient care.
Purpose of the Study:
- To determine the prevalence of chronic pain in Japanese patients with SMA types II and III.
- To identify clinical characteristics associated with chronic pain in SMA patients.
- To describe the pain status, including intensity, frequency, duration, and location, in affected individuals.
Main Methods:
- A cross-sectional study involving a mailed questionnaire survey to SMA types II and III patients in Japan.
- Data collected on chronic pain prevalence, clinical features, and motor function.
- Patients with chronic pain provided details on pain intensity, frequency, duration, location, and exacerbating/relieving factors.
Main Results:
- A 61.1% questionnaire recovery rate yielded 64 type II and 22 type III patients.
- Chronic pain prevalence was high, affecting 40.6% of type II and 40.9% of type III patients.
- Pain was generally mild but frequent, occurring daily with prolonged duration, primarily in the neck, back, and lower extremities. Inability to sit without support was linked to pain in type II patients.
Conclusions:
- Chronic pain affects a substantial proportion (over 40%) of spinal muscular atrophy patients.
- SMA-related pain is characterized by low intensity but high frequency and duration.
- The neck, back, and lower extremities are the most commonly affected areas, with sitting and physical activity exacerbating pain.

