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Spinal muscular atrophy, type 1
rareA 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.
- Identifiers
- MONDO:0009669 OMIM:253300Orphanet:83330
- Causal genes
- SMN1
- Part of
- Proximal spinal muscular atrophy
- Also known as
- proximal spinal muscular atrophy, type 1 · severe infantile spinal muscular atrophy · SMA type 1 · SMA type I · SMA-I
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