Spinal muscular atrophies in children: epidemiology, phenotypic features and modern opportunities of early clinical and instrumental diagnosis

M.R. Shaimurzin


The article describes the features of clinical manifestations from the position of phenotypic features of proximal spinal muscular atrophies (SMA). The paper deals with the international verified scales for performance assessment in children with SMA, recommended for use in practical health care in order to reliably assess the dynamics of clinical manifestations of the disease. An adapted clinical pattern is presented for reliable differentiation of the SMA form within the same nosological category. A multidisciplinary approach to the early diagnosis of SMA is discussed. The emphasis is placed on long-term clinical electromyographic monitoring, which allows reliably assess the progression of the disease at the early stages. The main causes of clinical errors in the diagnosis of SMA in children are identified. The problem of rehabilitation programs in the context of age is considered.


spinal muscular atrophies; clinical manifestations; functional and laboratory methods for SMA study; diagnostic errors; treatment options


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