Journal ArticleDOI
Oculopharyngeal muscular dystrophy: What's new?
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The authors place autosomal dominant oculopharyngeal muscular dystrophy in a historical perspective, look at the genealogy involved, and review the genetic studies, and present their rationale for the surgical treatment of the eyelid ptosis.Abstract:
The authors place autosomal dominant oculopharyngeal muscular dystrophy in a historical perspective, look at the genealogy involved, and review the genetic studies. In addition to summarizing what happens at the histopathological level, they examine the clinical characteristics of this late-onset dystrophy. Based on this knowledge, they try to present their rationale for the surgical treatment of the eyelid ptosis, taking into account that this disease is progressive and that treatment should be planned for the lifetime of the patient. Three representative cases are illustrated.read more
Citations
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Oculopharyngeal muscular dystrophy
TL;DR: A 58-year-old female presents with a gradual progressive worsening of bilateral blepharoptosis, and has a brother with bilateral ptosis, dysphagia, and profound muscle weakness.
Journal ArticleDOI
Oculopharyngeal muscular dystrophy: a late-onset polyalanine disease
TL;DR: Oculopharyngeal muscular dystrophy is one of the few triplet-repeat diseases for which the function of the mutated gene is known and what pathological insight is gained by the study of OPMD could lead to a better understanding of a much larger group of developmental and degenerative diseases.
Journal ArticleDOI
The 2016 version of the gene table of monogenic neuromuscular disorders (nuclear genome).
Jean-Claude Kaplan,Dalil Hamroun +1 more
TL;DR: This table is published annually in the December issue of Neuromuscular Disorders with an updated list of monogenic muscle diseases due to a primary defect residing in the nuclear genome.
Journal ArticleDOI
Muscle weakness and speech in oculopharyngeal muscular dystrophy.
TL;DR: Despite having less than half the maximal tongue strength of healthy controls, the individuals with OPMD exhibited minimal speech deficits, suggesting the threshold of weakness required for noticeable speech impairment may not have been reached by this group of adults with O PMD.
Book ChapterDOI
Oculopharyngeal muscular dystrophy.
TL;DR: Oculopharyngeal muscular dystrophy is a late-onset muscle disease associated with progressive ptosis of the eyelids, dysphagia, and unique tubulofilamentous intranuclear inclusions in skeletal muscle.
References
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Journal ArticleDOI
Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy
Bernard Brais,Jean-Pierre Bouchard,Ya-Gang Xie,Daniel Rochefort,Nathalie Chretien,Fernando M.S. Tomé,Ronald G. Lafrenière,Johanna M. Rommens,E. Uyama,O. Nohira,Sergiu C. Blumen,Amos D. Korczyn,Peter Heutink,Jean Mathieu,André Duranceau,François Codère,Michel Fardeau,Guy A. Rouleau +17 more
TL;DR: Pathological expansions of the polyalanine tract may cause mutated PABP2 oligomers to accumulate as filament inclusions in nuclei to cause autosomal recessive OPMD.
Journal ArticleDOI
Oculopharyngeal muscular dystrophy. A familial disease of late life characterized by dysphagia and progressive ptosis of the evelids.
Journal ArticleDOI
Oculopharyngeal muscular dystrophy.
TL;DR: Autosomal dominant oculopharyngeal muscular dystrophy is an adult-onset disease with worldwide distribution and unique intranuclear filament inclusions in skeletal muscle fibers are its morphological hallmark.
Oculopharyngeal muscular dystrophy
TL;DR: A 58-year-old female presents with a gradual progressive worsening of bilateral blepharoptosis, and has a brother with bilateral ptosis, dysphagia, and profound muscle weakness.
Journal ArticleDOI
The oculopharyngeal muscular dystrophy locus maps to the region of the cardiac α and β myosin heavy chain genes on chromosome 14q11.2−q13
Bernard Brais,Ya-Gang Xie,Marc Sanson,Kenneth Morgan,Jean Weissenbach,Amos D. Korczyn,Sergiu C. Blumen,Michel Fardeau,Fernando M.S. Tomé,Jean-Pierre Bouchard,Guy A. Rouleau +10 more
TL;DR: It is determined that the OPMD locus maps to a less than 5 cM region of chromosome 14q11.2-q13.2, which raises the intriguing possibility that either the cardiac alpha or beta myosin heavy chain genes may play a role in this disease.