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Spinal muscular atrophy, type III
rareProximal spinal muscular atrophy type 3 (SMA3) is a relatively mild 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:0009672 OMIM:253400Orphanet:83419
- Causal genes
- SMN1
- Part of
- Proximal spinal muscular atrophy
- Also known as
- Kugelberg Welander Syndrome · Kugelberg-Welander disease · Kugelberg-Welander syndrome · KWS · muscular atrophy, juvenile
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