Journal Article10.1016/0887-8994(91)90071-R
Childhood onset oculopharyngeal muscular dystrophy
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TL;DR: The clinical presentation and findings are consistent with childhood onset oculopharyngeal muscular dystrophy.
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About: This article is published in Pediatric Neurology. The article was published on 01 Sep 1991. The article focuses on the topics: Oculopharyngeal muscular dystrophy & Ptosis.
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Citations
Upper airway myopathy is not important in the pathophysiology of obstructive sleep apnea.
TL;DR: The current evidence would suggest that, if present, most of changes in UA structure and function would appear to be neurogenic rather than truly myopathic in origin, and some patients may be more vulnerable to UAM weakness with greater consequential functional effects than others, although this remains scarcely studied.
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Laryngeal Muscles Are Spared in the Dystrophin Deficient mdx Mouse
TL;DR: The authors concluded that these muscles are 1 of only a few muscle groups spared in this model of dystrophin deficiency, which highlights the unique aspects of the selected laryngeal skeletal muscles and their dissimilarity to limb skeletal muscle.
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Obstructive sleep apnea in patients with inflammatory myopathies.
Albert Selva-O'Callaghan,Gabriel Sampol,Odile Romero,Patricia Lloberes,Ernesto Trallero-Araguás,Miquel Vilardell-Tarrés +5 more
TL;DR: The frequency of obstructive sleep apnea in adult patients with inflammatory myopathy is high, and the possibility that these alterations play a role in persistent fatigue in these patients cannot be ruled out.
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Oculopharyngeal muscular dystrophy, other ocular myopathies, and progressive external ophthalmoplegia
TL;DR: Progressive external ophthalmoplegia of presumably neurogenic origin is seen in some of the familial spinocerebellar ataxias.
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A rapidly progressive adolescent-onset oculopharyngeal somatic syndrome with rimmed vacuoles in two siblings.
TL;DR: 2 Greek siblings who developed a rapidly progressive oculopharyngeal somatic syndrome are described, with muscle biopsies showing rimmed vacuoles and, in 1 case, cytoplasmic and intranuclear tubulofilamentous inclusions 25 nm in diameter.
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References
The Oculopharyngeal Syndrome
TL;DR: All of the numerous French-Canadian family groups with the oculopharyngeal syndrome are now known to be related to one another, and presumably share the same underlying biochemical defect, which has yet to be elucidated.
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Oculopharyngeal muscular dystrophy.
TL;DR: In 1915 Professor E. W. Taylor called attention to an unusual familial form of dysphagia with ptosis of the eyelids that was slowly progressive, leading eventually to death by starvati...
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Nuclear inclusions in oculopharyngeal muscular dystrophy in Quebec.
TL;DR: Seven French-Canadian cases of clearcut oculopharyngeal muscular dystrophy had their muscle studied for the presence of intranuclear inclusions, and they were all positive.
Nuclear inclusions in innervated cultured muscle fibers from patients with oculopharyngeal muscular dystrophy.
TL;DR: This study demonstrates that nuclear inclusions in OPMD reflect an intrinsic genetic defect; and neuronal influence, advanced maturation, or both, seem to be essential for their induction in muscle fibers.
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