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. 2023 Dec;13(6):e200213.
doi: 10.1212/CPJ.0000000000200213. Epub 2023 Oct 31.

Patient-Reported Impact of Symptoms in Spinal and Bulbar Muscular Atrophy

Abdullah Alqahtani  1 , Angela Kokkinis  1 , Christine Zizzi  1 , Nuran Dilek  1 , Kenneth H Fischbeck  1 , Chad R Heatwole  1 , Christopher Grunseich  1
Affiliations

Patient-Reported Impact of Symptoms in Spinal and Bulbar Muscular Atrophy

Abdullah Alqahtani et al. Neurol Clin Pract. 2023 Dec.

Erratum in

  • Erratum: Missing Full Disclosures.
    [No authors listed] [No authors listed] Neurol Clin Pract. 2025 Feb;15(1):e200416. doi: 10.1212/CPJ.0000000000200416. Epub 2024 Nov 8. Neurol Clin Pract. 2025. PMID: 39620055 Free PMC article.

Abstract

Background and objectives: The aim of this study was to determine the frequency and relative importance of symptoms experienced by patients with spinal and bulbar muscular atrophy (SBMA).

Methods: We conducted a cross-sectional study of 232 participants with SBMA. Participants provided input regarding 18 themes and 208 symptoms that affect patients with SBMA. Participants were asked about the relative importance of each symptom, and analysis was conducted to determine how age, education, disease duration, CAG repeat length, and ambulation status relate to symptom prevalence.

Results: Hip, thigh, or knee weakness (96.5%), fatigue (96.5%), problems with hands and fingers (95.7%), and limitations with walking (95.7%) were the themes with the highest prevalence in the study population. Ambulatory status was associated with the prevalence of 9 of the 14 themes, and CAG repeat length and education were each associated with 4 of 14 themes. The prevalence of fatigue was reduced in those with a lower CAG repeat length and increased with a longer disease duration. Younger patients reported a higher prevalence of emotional issues.

Discussion: There are a diversity of themes that are important to patients with SBMA. These themes have a variable level of importance to the population with SBMA and represent clinically meaningful outcome measures for future therapeutic interventions.

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Conflict of interest statement

A. AlQahtani reports no disclosures; A. Kokkinis reports no disclosures; K.H. Fischbeck reports no disclosures; N. Dilek reports no disclosures; C. Zizzi BS reports no disclosures; C. Heatwole receives royalties for the use of multiple disease-specific instruments. He has provided consultation to Biogen Idec, Ionis Pharmaceuticals, aTyr Pharma, AMO Pharma, Acceleron Pharma, Cytokinetics, Expansion Therapeutics, Harmony Biosciences, Regeneron Pharmaceuticals, Astellas Pharmaceuticals, AveXis, Recursion Pharmaceuticals, IRIS Medicine, Inc., Takeda Pharmaceutical Company, Scholar Rock, Avidity Biosciences, Novartis Pharmaceuticals Corporation, SwanBio Therapeutics, Neurocrine Biosciences, and the Marigold Foundation. He receives grant support from the Department of Defense, Duchenne UK, Parent Project Muscular Dystrophy, Recursion Pharmaceuticals, Swan Bio Therapeutics, the National Institute of Neurological Disorders and Stroke, the Muscular Dystrophy Association, the Friedreich's Ataxia Research Alliance, Cure Spinal Muscular Atrophy, and the Amyotrophic Lateral Sclerosis Association. He is the director of the University of Rochester's Center for Health and Technology; C. Grunseich reports no disclosures. Full disclosure form information provided by the authors is available with the full text of this article at Neurology.org/cp.

Figures

Figure 1
Figure 1. Prevalence and Average Impact of Symptomatic Themes, With Prevalence (%) on the Lower X-Axis (Dark Bars) and Average Impact Ranging From 0 to 4 on the Upper X-Axis (Light Bars)
See this image and copyright information in PMC

References

    1. Kennedy WR, Alter M, Sung JH. Progressive proximal spinal and bulbar muscular atrophy of late onset. A sex-linked recessive trait. Neurology. 1968;18(7):671-680. doi:10.1212/wnl.18.7.671 - DOI - PubMed
    1. Hashizume A, Fischbeck KH, Pennuto M, Fratta P, Katsuno M. Disease mechanism, biomarker and therapeutics for spinal and bulbar muscular atrophy (SBMA). J Neurol Neurosurg Psychiatry. 2020;91(10):1085-1091. doi:10.1136/jnnp-2020-322949 - DOI - PubMed
    1. Breza M, Koutsis G. Kennedy's disease (spinal and bulbar muscular atrophy): a clinically oriented review of a rare disease. J Neurol. 2019;266(3):565-573. doi:10.1007/s00415-018-8968-7 - DOI - PubMed
    1. Manzano R, Soraru G, Grunseich C, et al. . Beyond motor neurons: expanding the clinical spectrum in Kennedy's disease. J Neurol Neurosurg Psychiatry. 2018;89(8):808-812. doi:10.1136/jnnp-2017-316961 - DOI - PMC - PubMed
    1. Rhodes LE, Freeman BK, Auh S, et al. . Clinical features of spinal and bulbar muscular atrophy. Brain. 2009;132(12):3242-3251. doi:10.1093/brain/awp258 - DOI - PMC - PubMed

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