Clinical And Neurological Characteristics Of The Hereditary Spastic Paraplegia Of The Strumpell Inchildren

Аннотация

We examined 27 patients with spastic paraplegia of Strumpell, 7 of them were girls and 20 boys at the age of 2-14 years, who were monitored in the department of medical and genetic counseling of the Republican Center “Screening of Mother and Child” (Tashkent) in 2016 –2019 When examining the genealogy of patients in 11 cases, the marriage was related, which amounted to 41%. A genealogical analysis revealed that in 42% of cases (8 families), patients with a similar disease were found in families. All examined in the clinical picture revealed lower spastic paraparesis with a clear predominance of muscle hypertonicity (spastic type) over paresis. The characteristic features of these patients were a relatively benign course of the disease. To verify the diagnosis, it is also necessary to undergo a molecular genetic examination of SPGs of certain loci and DNA diagnostics.