Approach to a problem of the progressive muscular dystrophies in children: modern clinic-diagnostic algorithm

Abstract

Objective — to study the features of clinical symptoms of progressive muscular dystrophies (PMD) in children and to improve their clinical diagnostic algorithm.
 Methods and subjects. Three groups of children were examined: 33 children with Duchenne PMD aged 2 to 16 years, 7 — with lumbosacral forms of muscular dystrophies aged 3 months to 16 years and 19 — with spinal muscular atrophy aged 3 months to 16 years. The duration of the disease ranged from 3 months to 12 years. Patients underwent clinical and neurological examination to determine the leading clinical syndromes. Motor functions were evaluated on unified scales. Based on the obtained data, the degree of loss of active movements and muscle strength was objectively determined. Assessment of motor dynamics was performed using the NSA (North Star Ambulatory Assessment Worksheet) scale, the 6‑minute gait test, and other functional tests. CHOP — INTEND and HINE2 scales were used in patients with type I spinal muscular atrophy, and Motor Function Measure (MFM), Hammersmith, RULM, etc. scales were used in children with type II and III. Blood biochemical analysis was also performed to determine the level of creatine phosphokinase and lactate dehydrogenase in the blood. Instrumental research methods were used (electroneuromyography, spinal radiography in two projections), in some cases — magnetic resonance imaging was applied. The last stage was molecular genetic diagnosis and verification of clinical diagnosis. After the final diagnosis, patients with Duchenne PMD were prescribed combination therapy (hormonal (corticosteroids) and physiotherapy) according to an international care protocol. Patients are being monitored.
 Results. Complete history taking, timely detection of the first symptoms of the disease and assessment of their dynamics, analysis of neurological symptoms are important for confirming the diagnosis of PMD. Given the similar clinical symptoms in the onset of various forms of PMD to confirm the diagnosis should follow a certain stage of research. Molecular genetic diagnostics should be performed only after evaluation of the results of general clinical, instrumental and laboratory examination of the child. Timely clarification of the clinical diagnosis of PMD, in particular Duchenne forms, helps to justify the appointment of glucocorticosteroids and disease‑modifying therapy.
 Conclusions. Treating a patient according to international standards will help stop the process of muscle atrophy with a timely diagnosis.