Rare Pulmonology News

5 Facts you should know about

Spinal muscular atrophy (SMA)

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1

The term spinal muscular atrophy (SMA) refers to a group of genetic disorders all characterized by degeneration of anterior horn cells and resultant muscle atrophy and weakness

2

The severity of SMA is highly variable and the clinical features can be classified into 4 main phenotypes on the basis of age of onset and maximum motor function achieved

3

The clinical severity of SMA correlates inversely with SMN2 gene copy number and varies from extreme weakness and paraplegia of infancy to a mild proximal weakness of adulthood

4

The incidence of SMA in the United States is 1:10,000/11,000 live births

5

SMA affects individuals of all ethnic groups

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