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Page 1
Oculopharyngeal muscular dystrophy.
Brais B, Rouleau GA, Bouchard JP, Fardeau M, Tomé FM. Brais B, et al. Semin Neurol. 1999;19(1):59-66. doi: 10.1055/s-2008-1040826. Semin Neurol. 1999. PMID: 10711989 Review.
Autosomal dominant oculopharyngeal muscular dystrophy (OPMD) is an adult-onset disease with worldwide distribution. ...Autosomal recessive OPMD is caused by a double dose of a (GCG)7 PABP2 allele. The GCG expansions cause lengthening of a predicted pol …
Autosomal dominant oculopharyngeal muscular dystrophy (OPMD) is an adult-onset disease with worldwide distribution. ... …
The phenotypic and genotypic features of Chinese patients with oculopharyngeal muscular dystrophy.
Lin F, Yang K, Lin MT, Zheng FZ, Chen L, Ding YL, Ye ZX, Lin X, Wang N, Wang ZQ. Lin F, et al. Ann Clin Transl Neurol. 2023 Mar;10(3):426-439. doi: 10.1002/acn3.51733. Epub 2023 Jan 23. Ann Clin Transl Neurol. 2023. PMID: 36691350 Free PMC article.
OBJECTIVE: Oculopharyngeal muscular dystrophy (OPMD) is a late-onset inherited neuromuscular disorder, with progressive ptosis and dysphagia as common manifestations. ...A total of 33.3% of the patients developed muscle weakness at a median age at onset of 66 …
OBJECTIVE: Oculopharyngeal muscular dystrophy (OPMD) is a late-onset inherited neuromuscular disorder, with progressive …
Global muscular dystrophy research: A 25-year bibliometric perspective.
Ram S. Ram S. Neurol India. 2017 Sep-Oct;65(5):993-1000. doi: 10.4103/neuroindia.NI_1241_16. Neurol India. 2017. PMID: 28879884 Free article. Review.
Muscular dystrophy is a genetic disorder leading to progressive weakness of muscles caused due to dysfunction in or lack of protein in muscle cells. The prevalence of muscular dystrophy has been observed globally and is becoming a critical area of study for better health s …
Muscular dystrophy is a genetic disorder leading to progressive weakness of muscles caused due to dysfunction in or lack of protein in muscl …
Behavioural Impairment and Frontotemporal Dementia in Oculopharyngeal Muscular Dystrophy.
Tankink M, Horlings CGC, Voermans N, van der Sluijs B, Kessels RPC, van Engelen B, Raaphorst J. Tankink M, et al. J Neuromuscul Dis. 2022;9(1):129-135. doi: 10.3233/JND-200592. J Neuromuscul Dis. 2022. PMID: 34334411 Free PMC article.
Some patients with Oculopharyngeal Muscular Dystrophy (OPMD) develop frontotemporal dementia (FTD). ...We examined proportions with mild or severe behavioural changes, according to validated cut-off proxy scores. We examined correlations with the Hospi …
Some patients with Oculopharyngeal Muscular Dystrophy (OPMD) develop frontotemporal dementia (FTD). ...We examined prop …
Swallowing, Chewing and Speaking: Frequently Impaired in Oculopharyngeal Muscular Dystrophy.
Kroon RHMJM, Horlings CGC, de Swart BJM, van Engelen BGM, Kalf JG. Kroon RHMJM, et al. J Neuromuscul Dis. 2020;7(4):483-494. doi: 10.3233/JAD-200511. J Neuromuscul Dis. 2020. PMID: 32804098 Free PMC article.
BACKGROUND: Oculopharyngeal muscular dystrophy (OPMD) is a late onset progressive neuromuscular disorder. ...Aspiration of thin liquids was predicted by disease duration (OR = 1.11) and post-swallow residue with 20 mL (OR = 4.03). ...
BACKGROUND: Oculopharyngeal muscular dystrophy (OPMD) is a late onset progressive neuromuscular disorder. ...Aspiration …
Eye Muscle MRI in Myasthenia Gravis and Other Neuromuscular Disorders.
Keene KR, Notting IC, Verschuuren JJGM, Voermans N, de Keizer ROB, Beenakker JM, Tannemaat MR, Kan HE. Keene KR, et al. J Neuromuscul Dis. 2023;10(5):869-883. doi: 10.3233/JND-230023. J Neuromuscul Dis. 2023. PMID: 37182896 Free PMC article.
We used quantitative MRI to study the EOM in MG, healthy and disease controls, including Graves' ophthalmopathy (GO), oculopharyngeal muscular dystrophy (OPMD) and chronic progressive external ophthalmoplegia (CPEO). ...The severity of ophthalmoplegia did not …
We used quantitative MRI to study the EOM in MG, healthy and disease controls, including Graves' ophthalmopathy (GO), oculopharyngeal …
Intranuclear Aggregates Precede Clinical Onset in Oculopharyngeal Muscular Dystrophy.
van der Sluijs BM, Raz V, Lammens M, van den Heuvel LP, Voermans NC, van Engelen BG. van der Sluijs BM, et al. J Neuromuscul Dis. 2016 Mar 3;3(1):101-109. doi: 10.3233/JND-150118. J Neuromuscul Dis. 2016. PMID: 27854203
BACKGROUND: Oculopharyngeal muscular dystrophy (OPMD) has long been characterized by a combination of bilateral ptosis and dysphagia and subsequent limb girdle weakness. ...OBJECTIVE: The aim of this study was to describe the clinical and histopathological fe …
BACKGROUND: Oculopharyngeal muscular dystrophy (OPMD) has long been characterized by a combination of bilateral ptosis …
Frequency and type of cancers in myotonic dystrophy: A retrospective cross-sectional study.
D'Ambrosio ES, Chuang K, David WS, Amato AA, Gonzalez-Perez P. D'Ambrosio ES, et al. Muscle Nerve. 2023 Aug;68(2):142-148. doi: 10.1002/mus.27801. Epub 2023 Mar 27. Muscle Nerve. 2023. PMID: 36790141
METHODS: A retrospective, cross-sectional study was carried out on patients with genetically confirmed DM1, DM2, facioscapulohumeral muscular dystrophy (FSHD), and oculopharyngeal muscular dystrophy (OPMD) at our institutions from 2000 to 2020. ...Specificall …
METHODS: A retrospective, cross-sectional study was carried out on patients with genetically confirmed DM1, DM2, facioscapulohumeral muscula …
Common pathophysiology for ANXA11 disorders caused by aspartate 40 variants.
Natera-de Benito D, Olival J, Garcia-Cabau C, Jou C, Roldan M, Codina A, Expósito-Escudero J, Batlle C, Carrera-García L, Ortez C, Salvatella X, Palau F, Nascimento A, Hoenicka J. Natera-de Benito D, et al. Ann Clin Transl Neurol. 2023 Mar;10(3):408-425. doi: 10.1002/acn3.51731. Epub 2023 Jan 18. Ann Clin Transl Neurol. 2023. PMID: 36651622 Free PMC article.
RESULTS: Here we describe an individual with severe and rapidly progressive childhood-onset oculopharyngeal muscular dystrophy who carries a new ANXA11 variant at position Asp40 (p.Asp40Ile; c.118_119delGAinsAT). p.Asp40Ile is predicted to enhance the …
RESULTS: Here we describe an individual with severe and rapidly progressive childhood-onset oculopharyngeal muscular dystro …
Oropharyngeal dysphagia profiles in individuals with oculopharyngeal muscular dystrophy.
Tabor LC, Plowman EK, Romero-Clark C, Youssof S. Tabor LC, et al. Neurogastroenterol Motil. 2018 Apr;30(4):e13251. doi: 10.1111/nmo.13251. Epub 2017 Nov 16. Neurogastroenterol Motil. 2018. PMID: 29144056 Free PMC article.
BACKGROUND: Although dysphagia represents a hallmark manifestation of oculopharyngeal muscular dystrophy (OPMD), limited knowledge exists regarding the underlying nature of oropharyngeal swallowing impairments in this patient population. ...KEY RESULTS: One h …
BACKGROUND: Although dysphagia represents a hallmark manifestation of oculopharyngeal muscular dystrophy (OPMD), limite …
105 results