International collaborative study of the spinal muscular atrophies: Part 2. Analysis of genetic data

Abstract Most of the cases in the present study are of the juvenile onset, proximal form of spinal muscular atrophy. The results of the study indicate that the majority of these cases are due to one or more autosomal recessive genes, with very few being inherited as a dominant trait. Affected individuals vary widely in the severity of the disease. When 2 or more sibs are affected, they tend to be similar as regards severity, but there are a substantial number of sibships in which this is not so. The data are consistent with either a single gene, with a wide range of expressivity due to the effects of other genes and/or environmental influences, or 2 or more genes, but with considerable overlap in their expression.