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

Autor:	Alqahtani A; Neurogenetics 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., Kokkinis A; Neurogenetics 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., Zizzi C; Neurogenetics 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., Dilek N; Neurogenetics 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., Fischbeck KH; Neurogenetics 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., Heatwole CR; Neurogenetics 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., Grunseich C; Neurogenetics 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.
Jazyk:	angličtina
Zdroj:	Neurology. Clinical practice [Neurol Clin Pract] 2023 Dec; Vol. 13 (6), pp. e200213. Date of Electronic Publication: 2023 Oct 31.
DOI:	10.1212/CPJ.0000000000200213
Abstrakt:	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. Competing Interests: 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. (Written work prepared by employees of the Federal Government as part of their official duties is, under the U.S. Copyright Act, a “work of the United States Government” for which copyright protection under Title 17 of the United States Code is not available. As such, copyright does not extend to the contributions of employees of the Federal Government.)
Databáze:	MEDLINE
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