Spinal muscular atrophy: experience in diagnosis and rehabilitation management of 60 patients

Abstract

Sixty patients with spinal muscular atrophy (SMA) are presented. Although the life span with Type I SMA (Werdnig-Hoffmann disease) may be short, children with the disease can be made more comfortable with appropriate medical care and parental support. Despite electrodiagnostic findings which are not always pathognomonic and muscle biopsies which can be difficult to interpret, the clinical presentation of these infants is so typical and the natural course of the disease so predictable that management can be telescopically designed. findings and muscle biopsies are more definitive. In these more benign forms of SMA, anticipatory medical management focuses on possible In SMA-II (Childhood) and SMA-III (Kugelberg-Welander), electrodiagnostic findings and muscle biopsies are more definitive. In these more benign forms of SMA, anticipatory medical management focuses on possible dislocating hips, scoliosis, pulmonary compromise, and sudden increase in weakness associated with intercurrent illness or prolonged immobilization due to fractures or surgery. Further considerations include maintenance of strength and endurance, independence in self-care, psychosocial, educational, and vocational endeavors. These more chronically affected children are eminently habilitable.