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Histopathologic Marks of Tongue in a Mouse Model of Oculopharyngeal Muscular Dystrophy Suggest Biomechanical Defects.
Am J Pathol
January 2025
Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands. Electronic address:
The tongue facilitates vital activities such as swallowing. Difficulty swallowing (dysphagia) is common in the elderly population and in patients with adult-onset neuromuscular disease. In oculopharyngeal muscular dystrophy (OPMD), dysphagia is often the first symptom.
View Article and Find Full Text PDFMeasurement Properties of the Dysphagiameter for the Assessment of Dysphagia in Oculopharyngeal Muscular Dystrophy.
Dysphagia
December 2024
Faculté de médecine et des sciences de la santé, Université de Sherbrooke, 3001 12e avenue Nord, Sherbrooke, QC, J1H 5N4, Canada.
Oculopharyngeal muscular dystrophy (OPMD) is a rare late-onset muscle disease with progressive dysphagia as a major symptom. The Dysphagiameter is a newly developed patient-reported outcome measure (PROM) to assess the severity of dysphagia and its impact in patients with OPMD. This article reports on item reduction and a first assessment of the Dysphagiameter's psychometrics properties, in a French and English-speaking population of individuals with OPMD.
View Article and Find Full Text PDFRare digestive disease: Mitochondrial neurogastrointestinal encephalomyopathy, review of the literature.
J Dig Dis
January 2025
Department of Gastroenterology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China.
The median age of patients at diagnosis of mitochondrial neurogastrointestinal encephalomyopathy was 25 years. The most common neurological symptoms were leukoencephalopathy (83.1%), polyneuropathy (68.
View Article and Find Full Text PDFOculopharyngeal muscular dystrophy, myasthenia gravis, systemic lupus erythematosus: overlap and interactions.
BMJ Case Rep
November 2024
Neurology Department, Hospital Garcia de Orta EPE, Almada, Setúbal, Portugal.
Ptosis and proximal weakness may develop in multiple diseases including oculopharyngeal muscular dystrophy (OPMD) and myasthenia gravis (MG). These two entities can be challenging to differentiate since they may have important clinical and neurophysiological overlap. Systemic lupus erythematosus (SLE), a common autoimmune disease, has been described in association with MG.
View Article and Find Full Text PDFDifference in Drinking Times as a Function of Liquid Consistency in Adults With Oculopharyngeal Muscular Dystrophy: A Comparative Study Using Bostwick Consistometer and IDDSI Flow Test Methods.
J Texture Stud
December 2024
Faculté de médecine et des sciences de la santé, Université de Sherbrooke, Sherbrooke, Québec, Canada.
The main objective was to document the differences between drinking times and oral perception between liquids in individuals with dysphagia. A second objective was to assess variations in consistency categorization across instruments. A third objective was to explore the relationship between drinking time and dysphagia severity.
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