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Published on: March 4, 2014
Patient-Reported Impact of Symptoms in Spinal and Bulbar Muscular Atrophy
Abdullah Alqahtani1, Angela Kokkinis1, Christine Zizzi1
1Neurogenetics Branch (AA, AK, KHF, CG), National Institute of Neurological Disorders and Stroke, Bethesda, MD; and Department of Neurology (CZ, ND, CRH), University of Rochester, NY.
Spinal and bulbar muscular atrophy (SBMA) significantly impacts patients, with weakness and fatigue being most common. Disease duration and genetic factors influence symptom prevalence, guiding future treatment strategies.
Area of Science:
- Neurology
- Genetics
- Patient-Reported Outcomes
Background:
- Spinal and bulbar muscular atrophy (SBMA) is a rare, progressive neurodegenerative disease.
- Understanding patient-symptom experience is crucial for effective management.
Purpose of the Study:
- To determine the frequency and relative importance of symptoms in SBMA patients.
- To identify factors influencing symptom prevalence.
Main Methods:
- Cross-sectional study of 232 SBMA participants.
- Assessment of 208 symptoms across 18 themes.
- Analysis of correlations between symptoms and age, education, disease duration, CAG repeat length, and ambulation status.
Main Results:
- Most prevalent symptoms include hip/thigh/knee weakness, fatigue, hand/finger problems, and walking limitations.
- Ambulation status, CAG repeat length, and education correlated with symptom prevalence.
- Fatigue prevalence varied with CAG repeat length and disease duration; younger patients reported more emotional issues.
Conclusions:
- SBMA presents a diverse range of patient-reported symptoms.
- These symptoms hold variable importance and represent clinically meaningful outcomes for therapeutic interventions.
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