Molecular studies of spinal muscular atrophy

Abstract

Spinal muscular atrophy (SMA) is inherited as an autosomal recessive disorder which presents as a severe, intermediate or mild condition. The disease selectively affects the alpha motor neuron but nothing is as yet known about the underlying biochemical defect. Recent genetic studies have mapped all three types of SMA to the same region of human chromosome 5 (5q11.2-q13.3) raising the possibility that the mutations may be allelic. Polymorphic DNA markers have been characterised which are suitable for prenatal diagnosis. This is the first step in the isolation of the mutant gene (or genes) involved in this disorder.