Longitudinal Assessment of Strength, Functional Capacity, Oropharyngeal Function, and Quality of Life in Oculopharyngeal Muscular Dystrophy.
Journal
Neurology
ISSN: 1526-632X
Titre abrégé: Neurology
Pays: United States
ID NLM: 0401060
Informations de publication
Date de publication:
11 Aug 2021
11 Aug 2021
Historique:
received:
22
10
2020
accepted:
21
07
2021
entrez:
12
8
2021
pubmed:
13
8
2021
medline:
13
8
2021
Statut:
aheadofprint
Résumé
ObjectiveOculopharyngeal muscular dystrophy (OPMD) is a late-onset, progressive muscle disease. Disease progression is known to be slow, but details on the natural history remain unknown. We aimed to examine the natural history of OPMD in a large nationwide cohort to determine clinical outcome measures that capture disease progression and can be used in future clinical trials.MethodsPatients, invited by their treating physicians or from the national neuromuscular database, and invited family members, were examined twice, 20 months apart, using fixed dynamometry, MRC grading, maximum bite force and isometric tongue strength, Motor Function Measure (MFM), 10-step stair test, maximum swallowing-, chewing-, and speech-tasks and quality of life assessments.ResultsDisease progression was captured by 8 out of 18 measures over 20 months in forty-three genetically confirmed OPMD patients. The largest deterioration was seen in deltoid muscle strength (-27% (range -17 - -37%)), followed by the quadriceps (-14% (range -6 - -23%)), iliopsoas (-12.2%), tongue (-9.9%) and MRC sum-score (-2.5%). The 10-step stair test (-12.5%), MFM part D1 (-7.1%), and maximum repetition rate of /pa/ (-5.3%) showed a significant decrease as well (all p<0.05). Domain 'Physical functioning' of the SF-36 Health Survey significantly deteriorated (p=0.044). No relationship was found between disease progression and genotype or disease duration (p>0.05).ConclusionsDespite the slow disease progression of OPMD, this study showed that several outcome measures detected progression within 20 months. The deltoid muscle strength, measured by fixed dynamometry, showed the greatest decline. This longitudinal data provides clinical outcome measures that can be used as biomarkers in future clinical trials.
Identifiants
pubmed: 34380753
pii: WNL.0000000000012640
doi: 10.1212/WNL.0000000000012640
pmc: PMC8575133
pii:
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
Copyright © 2021 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.
Références
J Neurol Neurosurg Psychiatry. 1992 Sep;55(9):822-5
pubmed: 1402974
Muscle Nerve. 2015 Apr;51(4):496-500
pubmed: 25042897
J Neurol Neurosurg Psychiatry. 2019 May;90(5):576-585
pubmed: 30530568
Drug Discov Today Technol. 2013 Spring;10(1):e103-8
pubmed: 24050237
Swiss Med Wkly. 2005 Oct 1;135(39-40):574-86
pubmed: 16333769
J Clin Neurosci. 2011 May;18(5):674-7
pubmed: 21316245
J Neuromuscul Dis. 2020;7(4):483-494
pubmed: 32804098
Hong Kong Med J. 2013 Dec;19(6):556-9
pubmed: 24310666
Lab Invest. 2019 Nov;99(11):1728-1740
pubmed: 30894671
Neurology. 2018 Aug 7;91(6):e551-e561
pubmed: 30006409
Cochrane Database Syst Rev. 2013 Jul 09;(7):CD003907
pubmed: 23835682
Arch Phys Med Rehabil. 2021 Apr;102(4):604-610
pubmed: 33166523
Arch Phys Med Rehabil. 2006 Oct;87(10):1357-64
pubmed: 17023246
Br J Ophthalmol. 2012 Feb;96(2):281-3
pubmed: 21602480
Neuromuscul Disord. 2013 Jun;23(6):516-23
pubmed: 23578714
Neuromuscul Disord. 2015 Mar;25(3):238-46
pubmed: 25500011
Neuromuscul Disord. 2016 Mar;26(3):221-6
pubmed: 26948710
J Neurol. 2012 Aug;259(8):1648-54
pubmed: 22297459
Lancet Neurol. 2018 Aug;17(8):671-680
pubmed: 29934199
J Neuromuscul Dis. 2016 Mar 3;3(1):101-109
pubmed: 27854203
Folia Phoniatr Logop. 2017;69(4):143-153
pubmed: 29393211
Curr Neurol Neurosci Rep. 2009 Jan;9(1):76-82
pubmed: 19080757
Neuromuscul Disord. 2007 Jan;17(1):33-7
pubmed: 17141501
Med Care. 1992 Jun;30(6):473-83
pubmed: 1593914
J Voice. 2013 Sep;27(5):545-55
pubmed: 23769007
J Formos Med Assoc. 2012 Jul;111(7):397-402
pubmed: 22817818
Health Qual Life Outcomes. 2019 Jul 15;17(1):121
pubmed: 31307472
Hum Mol Genet. 2017 Sep 1;26(17):3235-3252
pubmed: 28575395
Int J Lang Commun Disord. 2018 Jan;53(1):144-156
pubmed: 28677236
J Rehabil Res Dev. 2014;51(3):335-50
pubmed: 25019658
Aging (Albany NY). 2013 Jun;5(6):412-26
pubmed: 23793615
Neuromuscul Disord. 2005 Jul;15(7):463-70
pubmed: 16106528
Int J Lang Commun Disord. 2008 Jan-Feb;43(1):41-54
pubmed: 17852539
Front Aging Neurosci. 2014 Nov 10;6:317
pubmed: 25426070
J Voice. 2011 Nov;25(6):709-13
pubmed: 21439778
Arch Phys Med Rehabil. 2012 Dec;93(12):2251-6.e1
pubmed: 22705238
J Neuromuscul Dis. 2015 Jun 4;2(2):175-180
pubmed: 27858728
J Voice. 2010 May;24(3):281-4
pubmed: 19111437
J Neurol. 2017 Mar;264(3):438-447
pubmed: 28000006
Neuromuscul Disord. 2017 Dec;27(12):1099-1105
pubmed: 29102430
J Speech Hear Res. 1992 Dec;35(6):1239-45
pubmed: 1494269