The orthopaedic aspects of spinal muscular atrophy

To clarify the role of the orthopaedic surgeon in the management of spinal muscular atrophy, the records of 130 patients were reviewed. Seventy-three had died. Of the remaining fifty-seven, fifty were re-examined. The clinical manifestations of the disease, particularly those giving rise to orthopaedic problems, were studied. At the time of review the average age of the patients was 11.5 years. Thirty-five could not walk and all had some degree of muscle weakness, more marked proximally and in the lower limbs. The most common medical problem was repeated respiratory infection and the major orthopaedic problem was scoliosis, often severe. Nine of the thirty-five patients with scoliosis had had spine fusion. Most of them suffered some functional loss in attaining spinal stability.