Myotubular (centronuclear) myopathy is a rare hereditary disease with primary muscle damage and clinical manifestations of congenital myopathy. The article describes a clinical case of myotubular myopathy in a boy who was observed by us from the age of 2 months to 2 years 5 months at Psychoneurological Department No. 1 of the Children’s Center for Psychoneurology and Epileptology of the Republican Children’s Clinical Hospital in Ufa. The disease was manifested by muscle weakness, hypotension, respiratory failure, peripheral tetraparesis, bulbar disorders, the need for artificial lung ventilation and tube feeding.
The article presents a description of a clinical case of ischemic stroke in a 32 year old patient as a consequence of dissection of the vertebral artery against the background of congenital connective tissue pathology, provoked by a sports load.
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