Autosomal recessive distal spinal muscular atrophy type 2

An autosomal recessive condition caused by mutation(s) in the SMN1 gene, encoding survival motor neuron protein. It is characterized by onset between 3 and 15 months of age, and is intermediate in terms of severity between spinal muscular atrophy (SMA) type I and SMA type III.

Disease Alternative Name

spinal muscular atrophy type 2
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