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Spinal muscular atrophy

Spinal muscular atrophy (SMA) is an autosomal recessive disease; The pathological changes were degeneration of spinal cord anterior horn cells; The clinical manifestations were progressive, symmetrical, flaccid paralysis and muscular atrophy dominated by proximal limbs; Normal intellectual development without sensory impairment; The incidence rate of population was 1/6000 to 1/10000. Gene mapping of the disease: 5q11 ~ 5q13. In 1995, lefebve isolated two SMA candidate genes, namely motor neuron survival gene (SMN) and neuron apoptosis inhibitor protein gene (NAIP). Both are located in 5q13. Homozygous deletion of SMN telomere exon 7 was found in 98% of SMA children.


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