Spinal Muscular Atrophy Carrier Testing

SMA: The Most Common Inherited Cause of Childhood Mortality

Genzyme offers carrier testing for spinal muscular atrophy (SMA), the most common inherited cause of early childhood mortality.

SMA is characterized by the progressive degeneration of the lower motor neurons, muscle weakness and, in the most common type, respiratory failure by age two.

SMA has an ~1 in 41 carrier frequency

Affects all racial and ethnic groups, and as with most genetic diseases, there is some ethnic variability in carrier frequencies.

SMA carrier risk in people with no family history of SMA:

Caucasian 1 in 35
Ashkenazi Jewish 1 in 41
Asian 1 in 53
African American 1 in 66
Hispanic 1 in 117

Learn more about SMA carrier testing from Genzyme.

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