Comorbid pathology in children with type II–III spinal muscular atrophy on the background of acquired deformities of the skeleton bones

Abstract

Spinal muscular atrophy (SMA) is a severe genetic disease associated with impaired SMN protein synthesis and degeneration of alpha motor neurons in the spinal cord. Developing neurogenic kyphoscoliosis and deformity of the chest against the background of symmetrical muscular hypotension sharply limit the activity of patients, worsening the concomitant diseases.Purpose. The study aims at determining the comorbid background of children with type II–III spinal muscular atrophy who underwent inpatient treatment for acquired skeletal bone deformities.Material and methods. A retrospective analysis of the data was carried out for the period from 2017 to 2021 based on the medical records of 31 children. The study group included 10 girls and 21 boys; 16 children were with type II and 15 — with type III spinal muscular atrophy. The following were assessed: comorbidity, neurological status, hemodynamic parameters, echocardiography, spirometry, laboratory research data.Results. In our study, comorbidity was associated with nutritional status (19% of patients overweight, 29% underweight), mental retardation (3%), gastroesophageal reflux disease (19%), diseases of the ENT organs (16%), eyes (19%), heart and lungs (93%). For health reasons, 61% of children required the use of non-invasive ventilation, and 71% of insufflator-aspirators. Limited motor abilities were registered based on the HFMSE and GMFCS scales, dysphagia based on the EDACS scale. A biochemical blood test revealed a low level of creatinine.Conclusion. Patients with spinal muscular atrophy require multidisciplinary care in diagnosis, treatment and rehabilitation. The use of objective rating scales, instrumental and laboratory methods of examination allow for a comprehensive analysis of the potential of children with spinal muscular atrophy, to select effective, family-oriented treatment regimens. Serum creatinine as a biomarker for the severity of muscle denervation makes it possible to monitor the progression of spinal muscular atrophy and predict response to treatment.