Prospective Analysis of Functional and Structural Changes in Patients with Spinal Muscular Atrophy-A Pilot Study

Spinal muscular atrophy (SMA) is a rare, autosomal recessive neuromuscular disease. Recent years have seen a significant development of therapeutic options for SMA patients. With the development of treatment methods, it has become necessary to adapt a physiotherapeutic approach to the evolving clinical picture of SMA patients. We presented an analysis of 40 SMA patients undergoing pharmacological treatment, examined twice in an average interval of 5 months. Twelve patients (non-sitters) were evaluated using CHOP-INTEND, while 28 (sitters) were tested using the Hammersmith scale. The research protocol consisted of measurements of upper and lower limb ranges of motion, and four tests for early detection of musculoskeletal changes. Both non-sitters and sitters patients showed motor improvement between the first and second examinations. Favorable changes in range of motion parameters were noted in most children, except for hip extension (HE) range, which deteriorated. An association was also observed between scale scores and the presence of contractures in the hip and knee joints depending on the group studied. Our findings showed that the presence of contractures at the hip and knee joint negatively affected functional improvement as measured by the scale scores.