Читать книгу Protocols for High-Risk Pregnancies - Группа авторов - Страница 108

Spinal muscular atrophy is a disease that results in diffuse and progressive muscle atrophy. Its effects range widely from onset of severe muscle weakness in infancy and early death from respiratory failure to mild muscle weakness in adults with otherwise normal survival. There are several types of spinal muscular atrophy which are based on age at onset of symptoms. The phenotypes are characterized in order of severity from type 1 (most severe) to type 4 (least severe). Of genetic disorders, spinal muscular atrophy is relatively common, with an incidence of 1 in 8000 live births and a carrier rate of 1 in 35 to 1 in 117, depending on ethnicity. It is the most common cause of infant death by a monogenic etiology.