Progressive myoclonus epilepsy. A variant with probable X-linked inheritance.
The syndrome of myoclonus, epilepsy, and mental deficiency is observed in a number of distinct nosologic entities differing with respect to clinical course, (--) pathologic, and biochemical findings. Genetically, the heterogeneity within this group of disorders is shown by the occurrence of autosomal recessive and dominant forms with incomplete penetrance. In this paper we report on a sibship with at least four affected males suffering from progressive myoclonus epilepsy, ataxia, and mental deterioration. The syndrome is probably X-linked, as suggested by the maternal transmission and mild, variable symptoms in some female carriers. In a survey of the literature we have found another pedigree suggesting X-linked inheritance of this variant of progressive myoclonus epilepsy.
D000328:Adult; D004569:Electroencephalography; D004831:Epilepsies, Myoclonic / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D005808:Genes, Recessive; D014644:Genetic Variation; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D012730:Sex Chromosomes; D014960:X Chromosome