Spinal muscular atrophy, type 1
Spinal muscular atrophy, type 1
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.
Also known as severe infantile spinal muscular atrophy, SMA type 1, SMA type I, SMA-I, SMA1, SMNI, spinal muscular atrophy-1, survival motor neuron spinal muscular atrophy, Werdnig Hoffmann disease, Werdnig-Hoffman disease, Werdnig-Hoffmann Disease — per MONDO
Also identified as
- DOID 13137 per MONDO
- ICD9 335.0 per MONDO
- NCIT C98670 per MONDO
- OMIM 253300 per MONDO
- Orphanet 83330 per MONDO
- SCTID 64383006 per MONDO
- UMLS C5848259 per MONDO
Affected Organs
| Organ | Involvement | Source |
|---|---|---|
| Musculature | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Musculature | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |
| Musculoskeletal system | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Musculoskeletal system | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |
| Nervous system | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Nervous system | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |