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  • Title: [Oculopharyngeal muscular dystrophy].
    Author: Knoblauch A, Köppel M.
    Journal: Schweiz Med Wochenschr; 1984 Apr 21; 114(16):557-61. PubMed ID: 6474119.
    Abstract:
    A family from eastern Switzerland with oculopharyngeal muscle dystrophy is described. The history shows seven affected persons in three generations. The inheritance pattern is autosomal dominant with complete penetrance. Bilateral ptosis and dysphagia, the hallmarks of the disorder, appear in the fourth decade and progess slowly. The late stage is characterized by ptosis, causing reclination of the head and marked upright posture. Dysphagia may be disabling, causing starvation, or, as in the index case, death by aspiration pneumonia. Surgical procedures are available to correct the ptosis and alleviate dysphagia.
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