Spinal muscular atrophy: clinical features and treatment of spinal and limb deformities. Interstate Consensus Protocol

Abstract

Objective. To substantiate the protocol for the diagnosis and treatment of deformities of the spine and limbs in patients with spinal muscular atrophy basing on an assessment of the level of evidence of published data.Material and Methods. Data on foreign protocols and their adaptation for use in Russia and CIS countries were analyzed and summarized.  The main platform was the evidence-based systematization of studies reflecting modern approaches to the diagnosis and treatment (including surgery) of spinal and limb deformities in patients with spinal muscular atrophy. The formulated recommendations are based on literature data and the authors’ own experience. Literature was searched in online databases of Medline, Embase, Web of Science, and Cochrane Library information platforms. Preference was given to studies that could be classified as evidence level 2+ and higher according to the ASMOK system. References are given in the order of their mention in the text. Search depth was 5 years. Methods used to assess the quality and strength of evidence were expert consensus and significance assessment in accordance with the rating scheme. Methods used to analyze evidence were reviews of published meta-analyzes and systematic reviews with evidence tables.Results. Various aspects of clinical examination, respiratory support and postural control, conservative and surgical treatment of spinal and limb deformities, preoperative, intraoperative and postoperative management, and anesthetic risk assessment in patients with spinal muscular atrophy are highlighted.Conclusion. Secondary orthopedic pathology in patients with spinal muscular atrophy causes not only severe violation of the musculoskeletal system functions (support, movement, and verticalization), but also pathological changes in the vital functions of internal organs and systems (respiratory, digestive, cardiovascular). A thorough analysis of the patient’s condition (assessment of general somatic, neurological, and orthopedic statuses) based on the data of preoperative multidisciplinary examination allows assessing the risks of complications and developing individual program of surgical rehabilitation of the patient. Surgical correction of orthopedic pathology in spinal muscular atrophy improves the functional status of the patient, improves the quality of life and the level of self-care, and optimizes the function of external respiration.