[Recessive autosomal spastic ataxia].
The authors report the case of a 12 year-old child who presented with a syndrome, isolated in Quebec, including spasticity, ataxia, distal muscle wasting, pes cavus, retinal striation, and the frequent presence of a prolapse of the mitral valve. This autosomal recessive disease is similar to Friedreich disease.
D001259:Ataxia / Q000235:genetics*; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D004576:Electromyography; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D009128:Muscle Spasticity / Q000235:genetics*
L'ataxie spastique autosomique récessive.