Alternative Names & Classifications:
Spinal Muscular Atrophy (CLINICAL)
Description
Spinal Muscular Atrophy (SMA) is an inherited condition caused by a mutation in the SMN1 gene, resulting in a deficiency of a motor neuron protein. This deficiency causes motor neurons in the spinal cord to shrink and die, severing the connection to muscles. Depending on the type, it can be fatal in infancy or manifest as a slower degeneration in adulthood.