Open AccessSpinal muscular atrophy. Clinical and genetic examination and risk assessments in pregnancy planning (SMA) woman
Author(s) -
Valery G. Mitkovsky,
Митьковский Валерий Геннадьевич,
Natalia Ponomareva,
Пономарева Наталия Юрьевна,
Vera V. Makarova,
Макарова Вера Владимировна,
Viktoria S. Milagina,
Милагина Виктория Станиславовна,
Ele. Yampol’skaya,
Ямпольская Елена Николаевна,
А. В. Кочетков,
Кочетков Андрей Васильевич
Publication year - 2019
Publication title -
kliničeskaâ praktika
Language(s) - English
Resource type - Journals
eISSN - 2618-8627
pISSN - 2220-3095
DOI - 10.17816/clinpract10194-100
Subject(s) - spinal muscular atrophy , sma* , etiology , medicine , smn1 , genetic counseling , inheritance (genetic algorithm) , prenatal diagnosis , pregnancy , atrophy , pathogenesis , genetic testing , physical examination , bioinformatics , pediatrics , pathology , surgery , fetus , disease , genetics , biology , gene , mathematics , combinatorics
The resulted clinical example of genetic diagnostics of the causes of spinal muscular atrophy in a patient planning fertility. The revealed mutation made it possible to clarify the etiology and pathogenesis of the development of neuromuscular disorders, determine the prognosis of inheritance and prenatal diagnosis, and evaluate the possibilities of adequate treatment.