/spinal muscular atrophy, type II

spinal muscular atrophy, type II

Rare Disease

MONDO:0009673

Also Known As

Intermediate spinal muscular atrophySMA type 2SMA type IISMA-IISMA2chronic infantile spinal muscular atrophychronic spinal muscular atrophymuscular atrophy, spinal, infantile chronic formmuscular atrophy, spinal, intermediate typespinal muscular atrophy, type IIspinal muscular atrophy-2Dubowitz diseaseSMA IISma 2muscular atrophy, spinal, Intermediate typeproximal spinal muscular atrophy type 2spinal muscular atrophy type 2spinal muscular atrophy type IIspinal muscular atrophy, type 2

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.