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Jeffrey Peterson, Michael Yen, Rod Foroozan; Distinctive Clinical Signs Differentiating Oculopharyngeal Muscular Dystrophy from Myasthenia Gravis. Invest. Ophthalmol. Vis. Sci. 2013;54(15):4381.
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Oculopharyngeal muscular dystrophy (OPMD) and myasthenia gravis (MG) have many overlapping symptoms, including progressive ptosis, dysphagia, facial weakness, and proximal limb weakness. In this study, we sought to determine specific clinical findings obtained during a history and complete ophthalmic exam that are predictive of a diagnosis of OPMD over MG.
A retrospective chart review was performed on patients with normal complete ophthalmic exams (n=5), genetically confirmed OPMD (n=4), and MG (n=30). The following variables were documented: positive responses on a 12-point review of systems, family history of ptosis or eyelid surgery, past medical history, past ocular history, and findings from a complete eight-point ophthalmic exam, including MRD1, levator function, presence or absence of fatigue on up-gaze, Ishihara color testing, and Amsler grid testing. Data were analyzed with binary logistic regression analysis.
Family history significant for eyelid surgery or ptosis, and presence of difficulty swallowing (noted on review of systems) were significantly associated with a diagnosis of OPMD in the univariate model (p<0.05). These variables remained significant in the multivariate model (p<0.05).
Swallowing difficulty and a family history significant for eyelid surgery or ptosis are predictive of a diagnosis of OPMD over MG. When evaluating patients with ptosis, these elements should be probed to help differentiate OPMD from MG.
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