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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.
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Layout table for eligibility information
Ages Eligible for Study:
up to 70 Years (Child, Adult, Older Adult)
Sexes Eligible for Study:
Accepts Healthy Volunteers:
SMA patients are diagnosed with SMN1 gene deletion or mutation.
Patients with SMA types I, II and III
Asymptomatic SMA carriers
Relatives of SMA patients or carriers
Unrelated healthy controls
Participants or Parent(s)/legal guardian(s) willing and able to complete the informed consent process
* Participants are unable to comply with trial procedures and visit schedule