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• W4290805665 abstract "Spinal muscular atrophy is a hereditary disease of the nervous system with damage to the motor neurons of the anterior horns of the spinal cord, leading to the development of atrophy and progressive muscle weakness. The article presents a clinical case of type 2 spinal muscular atrophy in a child aged 7 years. For the first time, the diagnosis of spinal muscular atrophy was made and substantiated by the molecular genetic method at the age of 1.5 years. At the age of 2.5 years, the diagnosis of spinal muscular atrophy was confirmed at the Veltischev Research and Clinical Institute for Pediatrics, Moscow. Over the next years, the patient experienced a rapid regression of previously acquired skills. The child ceased to stand with support, to sit independently. Contractures of the knee joints and ankle joints appeared; 2nd degree scoliosis of the spine; dislocation of the head of the left hip joint; symptoms of chronic ventilation failure. Once a year, planned hospitalization was carried out in the neurological department of the children’s hospital at the place of residence to conduct supportive therapy. The patient was repeatedly hospitalized at the Research and Clinical Institute for Pediatrics. In connection with the invariable indications for the treatment of this disease, according to the conclusion of the case conference of the Research and Clinical Institute of Pediatrics, pathogenetic treatment with risdiplam at a dose of 5 mg per day according to the program of premarketing use of this drug was started 4 months ago. While the patient continues to take risdiplam, the disease is stable and the general condition and motor function in the upper extremities improve. Adverse events while taking the drug are not observed." @default.
• W4290805665 created "2022-08-12" @default.
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• W4290805665 date "2022-08-10" @default.
• W4290805665 modified "2023-10-18" @default.
• W4290805665 title "Spinal muscular atrophy type 2: efficacy of risdiplam in a 7-year-old child" @default.
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• W4290805665 doi "https://doi.org/10.21508/1027-4065-2022-67-3-100-106" @default.
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