/spinal muscular atrophy, type III

spinal muscular atrophy, type III

Rare Disease

MONDO:0009672

Also Known As

childhood spinal muscular atrophyjuvenile spinal muscular atrophyKugelberg Welander SyndromeKugelberg-Welander diseaseSMA type 3SMA type IIISMA-IIISMA3spinal muscular atrophy IIIspinal muscular atrophy type 3spinal muscular atrophy, familialspinal muscular atrophy, type IIIspinal muscular atrophy, type III, modifier ofspinal muscular atrophy-3type III spinal muscular atrophyKWSKugelberg-Welander syndromeSMA 3Sma 3muscular atrophy, juvenilepaediatric spinal muscular atrophypediatric spinal muscular atrophyproximal spinal muscular atrophy type 3spinal muscular atrophy of childhoodspinal muscular atrophy, mild childhood and adolescent formspinal muscular atrophy, type 3

Definition

Proximal spinal muscular atrophy type 3 (SMA3) is a relatively mild 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.