/spinal muscular atrophy, type 1

spinal muscular atrophy, type 1

Rare Disease

MONDO:0009669

Also Known As

infantile muscular atrophyinfantile spinal muscular atrophyspinal muscular atrophies of childhoodHMN (hereditary motor neuropathy) proximal type ISMA type 1SMA type ISMA-ISMA1SMNIWerdnig Hoffmann diseaseWerdnig-Hoffman diseaseWerdnig-Hoffmann DiseaseWerdnig-Hoffmann diseasehereditary motor neuropathy proximal type Iprogressive muscular atrophy of infancysevere infantile spinal muscular atrophyspinal muscular atrophy-1survival motor neuron spinal muscular atrophySMA, infantile acute formmuscular atrophy, infantileproximal spinal muscular atrophy type 1proximal spinal muscular atrophy, type 1spinal muscular atrophy 1spinal muscular atrophy, type I

Definition

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.