—Limb-girdle dystrophy is a rubric that is considered "obsolete" by some authors1 and may be best considered a syndrome. We were unable to find specific discussions on autosomal dominant limb-girdle dystrophy in the citations1,2 offered by Boylan. We agree that one cannot clinically differentiate the autosomal dominant from the autosomal recessive forms.3 Without adequate family history and pedigree analysis, an autosomal dominant pattern of inheritance, although quite rare,3 obviously cannot be excluded. If an autosomal dominant pattern is established, however, one can virtually eliminate the possibility of a Duchenne dystrophy manifesting carrier since there cannot be male-to-male transmission of Duchenne dystrophy. This explains the focus on autosomal recessive and sporadic limb-girdle dystrophy as the major differential diagnosis for Duchenne dystrophy manifesting carrier in our article.4 Perhaps we should simplify this issue and reiterate that females with a limb-girdle syndrome and no family history
Barkhaus PE, Gilchrist JM. Duchenne Muscular Dystrophy Manifesting Carriers-Reply. Arch Neurol. 1990;47(9):951–952. doi:10.1001/archneur.1990.00530090019005
Coronavirus Resource Center
Customize your JAMA Network experience by selecting one or more topics from the list below.
Create a personal account or sign in to: