Genetic counseling in Becker type X-linked muscular dystrophy. II: Practical considerations.
A frequent problem of genetic counseling in Becker muscular dystrophy (BMD) is the differential diagnosis between BMD and the autosomal recessive benign limb-girdle muscular dystrophy (LGMD) if the pedigree pattern is not typical of X-linkage. In this situation, the a priori probability that a woman and her husband may be heterozygotes for LGMD can be shown to be 80 mu/a (mu = mutation rate in BMD; a = incidence ratio between BMD and LGMD). In addition, the age-corrected serum creatine kinase (CK) values of all female relatives are also important for the risk calculation of a woman being carrier of BMD.
D003402:Creatine Kinase / Q000097:blood; D003937:Diagnosis, Differential; D005260:Female; D005808:Genes, Recessive; D005817:Genetic Counseling; D008040:Genetic Linkage; D006579:Heterozygote; D006801:Humans; D008297:Male; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D012306:Risk; D013577:Syndrome; D014960:X Chromosome
D003402:Creatine Kinase