Cervical rotation, chest deformity and pelvic obliquity in patients with spinal muscular atrophy

Abstract

Background Musculoskeletal disorders are often observed in patients with spinal muscular atrophy (SMA). The aim of the study was to assess passive ranges of rotation in the cervical spine, chest deformity and pelvic obliquity in SMA patients, and to compare these results to the norms obtained in the group of healthy individuals. The second aim was to review these measurements and Cobb angle values for correlations in SMA patients. Methods The study included 74 patients with SMA and 89 healthy individuals aged 2 to 18 years. Cervical Rotation (CR), Supine Angle of Trunk Rotation (SATR) and Pelvic Obliquity (PO) tests were carried out. Results Cervical rotation ranges were significantly higher in the control group than in SMA patients (p < 0.05). Differences between cervical rotation ranges to the left and to the right were significantly larger in SMA I and SMA II groups than in healthy individuals (p = 0.000). Chest asymmetry and pelvic obliquity were bigger in SMA groups than in the control (p < 0.05). Significant correlations between cervical rotation measurements, chest deformity, pelvic obliquity and Cobb angle were found in SMA individuals, depending on the type. Conclusions The results of the study suggest that CR, SATR and PO tests may assist in the assessment of SMA patients in addition to the radiographic evaluation of the spine. Biomechanical relationships between disorders located in various skeletal structures should be taken into account in the treatment of SMA patients. Special attention should be given to assessing postural parameters in non- sitters and sitters. Treatment of patients with SMA and associated musculoskeletal disorders requires a multi-specialist approach.

Motor Function of Children with SMA1 and SMA2 Depends on the Neck and Trunk Muscle Strength, Deformation of the Spine, and the Range of Motion in the Limb Joints

“…The impact of scoliosis on the ranges of neck rotation and other postural parameters in 74 children with SMA1, SMA2, and SMA3 (not treated pharmacologically) was discussed in an earlier study by Stępień et al The authors, in addition to the limitations of the range of cervical rotation, showed that the ranges of neck rotation, chest shape, and pelvic alignment are interrelated and depend on the prevalence of scoliosis, age, and the type of SMA. Children with SMA1 and SMA2 showed more severe deformities and movement limitations, compared to the SMA3 and control groups [8]. Fujak et al, when analyzing the natural development of scoliosis, observed that the oblique position of the pelvis is common in children with SMA, including the youngest ones, and it is more severe in the SMA2 group, compared to the SMA3 type [7].…”

“…Spinal muscular atrophy (SMA) is a rare genetic disease [1] that leads to many limitations in the daily functioning of the affected persons and their families. The disease has a progressive course, featuring weakened muscle strength [2][3][4][5][6], progressive deformities of the spine and chest [7,8], limitations of the range of motion (ROM) in the cervical spine and limb joints [8][9][10], respiratory disorders, and the gradual deterioration of the functional status [6,[11][12][13].…”

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

“…In 95% of cases, SMA is caused by deletion and/or mutation in the survival motor neuron 1 (SMN1) gene on chromosome 5, which results in insufficient production of the survival motor neuron (SMN) protein [ 1 , 3 ]. It manifests as muscle flaccidity and gradual atrophy, resulting in progressing functional limitations [ 3 , 4 ]. Motor development is known to regress in untreated patients.…”

Rehabilitation of spinal muscular atrophy: current consensus and future direction

“…Spinal orthosis is recommended if the child has Cobb's angle of more than 20 degrees with hypotonic trunk [1]. Distortion of the rib cage related to scoliosis is associated with respiratory disease, and pelvic obliquity associated with scoliosis affects the ability to maintain balance in the sitting position [25]. Furthermore, hip dislocation or subluxation is common in people with SMA [26].…”