spinal muscular atrophy, type 1
A severe infantile form of proximal spinal muscular atrophy characterized by severe and progressive muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.
MONDO:0019079
proximal spinal muscular atrophy
is_a
SMA type 1
exact
SMA type I
exact
SMA-I
exact
SMA1
exact
SMNI
exact
Werdnig Hoffmann disease
exact
Werdnig-Hoffman disease
exact
Werdnig-Hoffmann Disease
exact
Werdnig-Hoffmann disease
exact
infantile muscular atrophy
broad
infantile spinal muscular atrophy
broad
proximal spinal muscular atrophy, type 1
related
severe infantile spinal muscular atrophy
exact
spinal muscular atrophies of childhood
broad
spinal muscular atrophy 1
related
spinal muscular atrophy, type I
related
spinal muscular atrophy-1
exact
survival motor neuron spinal muscular atrophy
exact
SPAC2G11.08c