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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. To date, OPMD has rarely been reported among East Asians. ...
OBJECTIVE: Oculopharyngeal muscular dystrophy (OPMD) is a late-onset inherited neuromuscular disorder, with progressive ptosis …
Exophthalmos associated with chronic progressive external ophthalmoplegia.
Takeda Y, Suzuki H, Hosono K, Hikoya A, Komori M, Inagaki R, Haseoka T, Arai S, Takagi Y, Hotta Y, Sato M. Takeda Y, et al. Jpn J Ophthalmol. 2022 May;66(3):314-319. doi: 10.1007/s10384-022-00920-5. Epub 2022 Apr 19. Jpn J Ophthalmol. 2022. PMID: 35438395
PURPOSE: Chronic progressive external ophthalmoplegia (CPEO) is a mitochondrial disease characterized by slowly progressive ptosis and limitations in ocular motility. Although exophthalmos is not considered to be a common feature of CPEO, this study focused on the i …
PURPOSE: Chronic progressive external ophthalmoplegia (CPEO) is a mitochondrial disease characterized by slowly progressive ptosis …
Rare presentations of primary amyloidosis as ptosis: a case report.
Lee PH, Liao IC, Lee WA. Lee PH, et al. BMC Ophthalmol. 2022 Jan 29;22(1):43. doi: 10.1186/s12886-022-02267-4. BMC Ophthalmol. 2022. PMID: 35093058 Free PMC article.
Definite diagnosis depends on clinical suspicion and tissue-proven biopsy. CASE PRESENTATION: A 50-year-old female had painless progressive ptosis in both eyes for 6 months. She presented with limited upward gaze due to swelling of the upper eyelids OU. ...
Definite diagnosis depends on clinical suspicion and tissue-proven biopsy. CASE PRESENTATION: A 50-year-old female had painless progressi …
Oculopharyngeal muscular dystrophy: a late-onset polyalanine disease.
Brais B. Brais B. Cytogenet Genome Res. 2003;100(1-4):252-60. doi: 10.1159/000072861. Cytogenet Genome Res. 2003. PMID: 14526187 Review.
Oculopharyngeal muscular dystrophy (OPMD) is a muscle disease of late onset associated with progressive ptosis of the eyelids, dysphagia, and unique tubulofilamentous intranuclear inclusions (INIs). ...
Oculopharyngeal muscular dystrophy (OPMD) is a muscle disease of late onset associated with progressive ptosis of the eyelids, …
Delayed diagnosis of oculopharyngeal muscular dystrophy in Scotland.
Agarwal PK, Mansfield DC, Mechan D, Al-Shahi Salman R, Davenport RJ, Connor M, Metcalfe R, Petty R. Agarwal PK, et al. Br J Ophthalmol. 2012 Feb;96(2):281-3. doi: 10.1136/bjo.2010.200378. Epub 2011 May 20. Br J Ophthalmol. 2012. PMID: 21602480
INTRODUCTION: Oculopharyngeal muscular dystrophy (OPMD) presents with progressive ptosis, dysphagia and limb girdle weakness, and is caused by expansion of a trinucleotide tandem repeat within the gene encoding poly-(A) binding protein 2. ...
INTRODUCTION: Oculopharyngeal muscular dystrophy (OPMD) presents with progressive ptosis, dysphagia and limb girdle weakness, …
Correlation between PABPN1 genotype and disease severity in oculopharyngeal muscular dystrophy.
Richard P, Trollet C, Stojkovic T, de Becdelievre A, Perie S, Pouget J, Eymard B; Neurologists of French Neuromuscular Reference Centers CORNEMUS and FILNEMUS. Richard P, et al. Neurology. 2017 Jan 24;88(4):359-365. doi: 10.1212/WNL.0000000000003554. Epub 2016 Dec 23. Neurology. 2017. PMID: 28011929 Free PMC article.
OBJECTIVE: Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant adult-onset disease characterized by progressive ptosis, dysphagia, and proximal limb weakness. The genetic cause is an expanded (GCN)n mutation in the PABPN1 gene encoding for the polyade …
OBJECTIVE: Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant adult-onset disease characterized by progressive pto …
Extraocular muscle atrophy and central nervous system involvement in chronic progressive external ophthalmoplegia.
Yu-Wai-Man C, Smith FE, Firbank MJ, Guthrie G, Guthrie S, Gorman GS, Taylor RW, Turnbull DM, Griffiths PG, Blamire AM, Chinnery PF, Yu-Wai-Man P. Yu-Wai-Man C, et al. PLoS One. 2013 Sep 27;8(9):e75048. doi: 10.1371/journal.pone.0075048. eCollection 2013. PLoS One. 2013. PMID: 24086434 Free PMC article.
BACKGROUND: Chronic progressive external ophthalmoplegia (CPEO) is a classical mitochondrial ocular disorder characterised by bilateral progressive ptosis and ophthalmoplegia. These ocular features can develop either in isolation or in association with other promine …
BACKGROUND: Chronic progressive external ophthalmoplegia (CPEO) is a classical mitochondrial ocular disorder characterised by bilateral p …
Early-onset facioscapulohumeral muscular dystrophy type 1 with some atypical features.
Dorobek M, van der Maarel SM, Lemmers RJ, Ryniewicz B, Kabzińska D, Frants RR, Gawel M, Walecki J, Hausmanowa-Petrusewicz I. Dorobek M, et al. J Child Neurol. 2015 Apr;30(5):580-7. doi: 10.1177/0883073814528281. Epub 2014 Apr 9. J Child Neurol. 2015. PMID: 24717985
In addition, even within early-onset facioscapulohumeral muscular dystrophy type 1 phenotypes, some cases had uncommon features (head drop, early disabling contractures, progressive ptosis, and respiratory insufficiency and cardiomyopathy)....
In addition, even within early-onset facioscapulohumeral muscular dystrophy type 1 phenotypes, some cases had uncommon features (head drop, …
Clinical and electrophysiologic features of oculopharyngeal muscular dystrophy: lack of evidence for an associated peripheral neuropathy.
Jones LK Jr, Harper CM. Jones LK Jr, et al. Clin Neurophysiol. 2010 Jun;121(6):870-3. doi: 10.1016/j.clinph.2010.01.022. Epub 2010 Feb 23. Clin Neurophysiol. 2010. PMID: 20181517
RESULTS: Fourteen patients who met the design criteria were identified and included. All had progressive ptosis and dysphagia, and most had ophthalmoparesis and proximal limb weakness. ...
RESULTS: Fourteen patients who met the design criteria were identified and included. All had progressive ptosis and dysphagia, …
HnRNP A1 and A/B interaction with PABPN1 in oculopharyngeal muscular dystrophy.
Fan X, Messaed C, Dion P, Laganiere J, Brais B, Karpati G, Rouleau GA. Fan X, et al. Can J Neurol Sci. 2003 Aug;30(3):244-51. doi: 10.1017/s0317167100002675. Can J Neurol Sci. 2003. PMID: 12945950
BACKGROUND: Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset disorder characterized by progressive ptosis, dysphagia and proximal limb weakness. The autosomal dominant form of this disease is caused by short expansions of a (GCG)6 repeat to (GCG) in the P …
BACKGROUND: Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset disorder characterized by progressive ptosis, dysphagi …
18 results