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| Application of natural history research in spinal muscular atrophy |
| GE Xiushan1 SONG Fang2▲ |
1.Department of Neurology, Children Hospital Affiliated to Capital Institute of Pediatric, Beijing 100020, China;
2.Department of Medical Genetics, Capital Institute of Pediatric, Beijing 100020, China |
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Abstract Spinal muscular atrophy (SMA) in children is a common fatal autosomal recessive genetic disease, and motor neuron survival gene 1 (SMN1) is its pathogenic gene. Combined with its typical clinical manifestations, electromyography and other auxiliary examinations, especially gene analysis, most patients can be diagnosed and classified. Currently, the interventions with high accessibility are limited. The natural history of disease is an important part of the clinical study of disease, and its role in the description of clinical manifestations and pathogenesis is fundamental. This paper will elaborate on the natural history of SMA, including the concept and value of natural history, natural history data of SMA patients, and the role of the study. The study of natural history of SMA can provide a strong theoretical basis for the clinical diagnosis, treatment and even prevention of SMA.
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