[Oculopharyngeal muscular dystrophy with dysphagia in a Jewess from Uzbekistan].
An 82-year-old Jewish woman from Tashkent, Uzbekistan was hospitalized because of dysphagia and weight loss. Physical examination revealed bilateral ptosis. The diagnosis of the rare inherited disease oculopharyngeal muscular dystrophy was confirmed by electron microscopy of biopsied muscle. It has recently been found that the prevalence of the disease among Jews from Uzbekistan is very high. It should therefore be considered when such patients present with dysphagia, so invasive imaging procedures can be avoided.
Ben Simon
G
G
Dept. of Medicine E, Chaim Sheba Medical Center, Tel Hashomer.
Felberg
I
I
Sadeh
M
M
Farfel
Z
Z
D000368:Aged; D000369:Aged, 80 and over; D001763:Blepharoptosis / Q000209:etiology; D003680:Deglutition Disorders / Q000209:etiology*; D005260:Female; D006801:Humans; D007557:Israel; D007585:Jews; D009136:Muscular Dystrophies / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D009801:Oculomotor Muscles; D010609:Pharyngeal Muscles; D014610:Uzbekistan / Q000208:ethnology