Spinal muscular atrophy (SMA) is an autosomal recessive disease that causes progressive muscle wasting and weakness due to loss of motor neurons in the spinal cord. This is a registered cohort of spinal muscular atrophy (SMA) type I，II and III in China. This study will provide further insights into the clinical course of SMA including overall survival, demographic characteristics, motor function, respiratory support, feeding and nutritional support, growth and development. The correlation of genotype and phenotype will be conducted.
Study Type
OBSERVATIONAL
Enrollment
2,000
Department of Neurology, First Affiliated Hospital Fujian Medical University
Fuzhou, Fujian, China
RECRUITINGThe time to death
Time frame: From date of enrollment until the date of death from any cause, assessed up to 20years
The correlation of genotype and phenotype
Genotype is defined by survival motor neuron (SMN) 2 copy number(s) and phenotype is defined by clinical types and characteristics.
Time frame: From date of enrollment until the date of death from any cause, assessed up to 20years
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