L.B. NOVIKOVA, A.P. AKOPIAN, K.M. SHARAPOVA, R.F. LATYPOVA, N.M. FAIZULLINA

 Bashkir State Medical University, Ufa

 Contact details:

Sharapova K.M. — PhD (medicine), Associate Professor of the Department of Neurology

Address: 3 Lenin St., Ufa, Russian Federation, 450008, tel.: +7-987-035-33-59, e-mail: sharapovakarina.2020@gmail.com

 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.

Key words: children, myotubular myopathy, X-linked recessive inheritance, muscular hypotension, respiratory failure.

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