A cluster of Friedreich's ataxia in Rimouski, Québec.
We described a cluster of 8 independent sibships of Friedreich's ataxia in the St-Fabien parish of Rimouski and have shown that they are all related within 6 generations. The study of this geographic and genetic isolate permitted the investigation of certain unusual features of the disease such as constant myopia, delayed reaction times to pain, flexor spasms, and a rapid evolution.
D000293:Adolescent; D000328:Adult; D002648:Child; D005260:Female; D005621:Friedreich Ataxia / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D007361:Intelligence Tests; D008297:Male; D010375:Pedigree; D011792:Quebec