Here we report the case of a 73-year-old Italian woman affected by genetically confirmed oculopharyngeal muscular dystrophy (OPMD) with a negative family history. As OPMD is usually transmitted as an autosomal-dominant meiotically stable trait, this case allows us to suggest that putative de novo OPMD mutations might occur more frequently than previously thought; moreover, when compatible with a proper clinical phenotype, OPMD might be included in the differential diagnosis even in the absence of a positive family history.
Tremolizzo, L., Galbussera, A., Tagliabue, E., Fermi, S., Bruttini, M., Lamperti, C., et al. (2007). An apparently sporadic case of oculopharyngeal muscular dystrophy: the first Italian report. NEUROLOGICAL SCIENCES, 28(6), 339-341 [10.1007/s10072-007-0850-9].
An apparently sporadic case of oculopharyngeal muscular dystrophy: the first Italian report
TREMOLIZZO, LUCIO;APPOLLONIO, ILDEBRANDO;FERRARESE, CARLO
2007
Abstract
Here we report the case of a 73-year-old Italian woman affected by genetically confirmed oculopharyngeal muscular dystrophy (OPMD) with a negative family history. As OPMD is usually transmitted as an autosomal-dominant meiotically stable trait, this case allows us to suggest that putative de novo OPMD mutations might occur more frequently than previously thought; moreover, when compatible with a proper clinical phenotype, OPMD might be included in the differential diagnosis even in the absence of a positive family history.
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