title: Charcot-Marie-Tooth disease: data for genetic counseling relating age to risk.
abstract: One hundred and nine individuals from complete sibships at risk for autosomal dominant Charcot-Marie-Tooth (CMT) disease in 15 unrelated families were evaluated by physical examination and motor nerve conduction studies. Penetrance of the gene was 28% in the first decade, but was essentially complete by the middle of the third decade. The average age of onset of symptoms was 12.2 y, with a standard deviation of 7.3. Persons at risk who have no clinical manifestations and who are over age 27 have less than a 3% probability of having inherited the CMT gene.
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D005799:Genes, Dominant; D005817:Genetic Counseling; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D009133:Muscular Atrophy / Q000235:genetics*; D009431:Neural Conduction; D012306:Risk