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Spinal muscular atrophy, type II
rareProximal spinal muscular atrophy type 2 (SMA2) is a chronic infantile 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.
- Identifiers
- MONDO:0009673 OMIM:253550Orphanet:83418
- Causal genes
- SMN1
- Part of
- Proximal spinal muscular atrophy
- Also known as
- chronic infantile spinal muscular atrophy · chronic spinal muscular atrophy · Dubowitz disease · Intermediate spinal muscular atrophy · muscular atrophy, spinal, infantile chronic form
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