The research progress of clinical diagnosis of spinal muscular atrophy
Abstract
Spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disease caused by degeneration of anterior horn cell in spinal cord. The clinical feature is characterized by progressive symmetrical myasthenia and amyotrophia. The disease is caused by mutation of survival motor neuron (SMN1) gene. Four clinical types are defined for SMA: type Ⅰ, Ⅱ, Ⅲ and Ⅳ. The diagnosis depends on clinical manifestation, inherited history, laboratory test and genetic analysis. To date, there is no effective treatment for SMA, so prenatal diagnosis and carrier screening are important for the prevention of this disease.
DOI:10.3969/j.issn.1672⁃6731.2012.03.005
DOI:10.3969/j.issn.1672⁃6731.2012.03.005
Keywords
Muscular atrophy, spinal; Gene deletion; Prenatal diagnosis; Review
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