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Clinical and genetic examination of 48 children with complex symptomatic muscular hypotension (MH) was performed. The role of hereditary factors in connection with some childhood diseases was studied. In 23 children and their parents a high prevalence of connective tissue dysplasia was revealed and Ehlers – Danlosaʹs syndrome was identified. In 12 cases MH were caused by hereditary neuromuscular diseases: progressive muscular dystrophies and Verdnig – Hoffmanʹs disease. These were confirmed by the genetic analysis. In 13 children MH was caused by perinatal lesions. The overwhelming presence of connective tissue dysplasia signs in children with MH suggests the presence of connective tissue pathology. In the other cases, the use of molecular genetics analysis is useful for the differential diagnosis.
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Keywords: muscular hypotonia, connective tissue pathology, differential diagnosis