DISEASES

Disease-gene associations mined from literature

Human genes for adult spinal muscular atrophy

Adult spinal muscular atrophy [DOID:0050529]

A survival motor neuron spinal muscular atrophy that is characterized by progressive muscular weakness and motor disability that typically presents in the third decade of life and has_material_basis_in mutations in the SMN1 or SMN2 genes that are required for the survival of motor neurons.

Synonyms:  adult spinal muscular atrophy,  DOID:0050529,  adult spinal muscular atrophies,  SMA4,  SPINAL MUSCULAR ATROPHY, ADULT FORM ...

Linkouts:  OMIM