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

Abstract

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.

Examination of Upper Limb Function and the Relationship with Gross Motor Functional and Structural Parameters in Patients with Spinal Muscular Atrophy

“…On the other hand, these results differed from our previous publication, where an improvement of four points in the first part and a six point total score was shown at the 10-month follow-up [ 10 ]. However, that study also included young patients who were both diagnosed and received treatment relatively early, sometimes just after birth, and showed a surprisingly high improvement of nine and 13 points, which agreed with Pane’s assumption that patients show a significantly higher improvement in function in the first 12 months than at 24 [ 10 , 23 ]. Such an early diagnosis and treatment protected those children from both large-scale muscle loss and postural deformities.…”

“…Additionally, we proved in our previous publication that SATR was negatively correlated with the HFMSE score. In this study, we observed older children in whom the structural changes did not progress as quickly as in younger children; also, some of them functioned relatively highly and therefore showed no improvement [ 4 , 10 ]. The structural parameter results also demonstrated that the shortening of one side (side trunk length difference) had a negative relationship with the RULM and the HFMSE total score.…”

“…The last part of the examination focused on physical impairments (structural parameters). The study included parameters such as the cervical rotation test (CR), supine angle of trunk test (SATR), and side length trunk difference [ 4 , 10 , 18 ]. CR was measured using a plurimeter (Rippstain Inclinometer) and presented the range of cervical spine rotation.…”

“…The length between these two points on the same side was checked using a tape measure. Detailed characteristics of the functional scales and physical impairments were published in our previous study [ 10 , 20 ]. In order to better present the study protocol, the flowchart presented below was created ( Figure 1 ).…”

“…Previously known classifications into types SMA1, SMA2, and SMA3 have stopped being relevant [ 1 , 9 ]. From a certain date, it has become more common to use division depending on the children’s functional level such as sitters, no-sitters, or walkers [ 10 ]. SMA patients undergoing treatment not only regain previously lost functions but also are able to achieve new milestones [ 3 , 6 , 8 ].…”