Genetic counseling in Becker type X‐linked muscular dystrophy. II: Practical considerations

Abstract

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 80μ/a (μ = mutation rate in BMD: a = incidence ratio between BMD and LGMD). In addition, the agecorrected serum creatine kinase (CK) values of all female relatives are also important for the risk calculation of a woman being carrier of BMD.