Spinal muscular atrophy, type II
Spinal muscular atrophy, type II
Definition
Proximal spinal muscular atrophy type 2 (SMA2) is a chronic infantile form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.
Also known as chronic infantile spinal muscular atrophy, chronic spinal muscular atrophy, Intermediate spinal muscular atrophy, muscular atrophy, spinal, infantile chronic form, muscular atrophy, spinal, intermediate type, SMA type 2, SMA type II, SMA-II, SMA2, spinal muscular atrophy-2, spinal muscular atrophy, type II — per MONDO