/spinal muscular atrophy, type IV

spinal muscular atrophy, type IV

Rare Disease

MONDO:0010056

Also Known As

SMA type 4SMA type IVSMA-IVSMA4adult spinal muscular atrophyspinal muscular atrophy of adultsspinal muscular atrophy, adult formspinal muscular atrophy, type IVspinal muscular atrophy-4SMA 4adult-onset spinal muscular atrophyproximal spinal muscular atrophy type 4spinal muscular atrophy 4spinal muscular atrophy type 4spinal muscular atrophy, proximal, adult, autosomal recessivespinal muscular atrophy, type 4

Definition

Proximal spinal muscular atrophy type 4 (SMA4) is the adult-onset 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.