Spinal muscular atrophy, type III
Spinal muscular atrophy, type III
Definition
Proximal 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.
Also known as Kugelberg Welander Syndrome, Kugelberg-Welander disease, SMA type 3, SMA type III, SMA-III, SMA3, spinal muscular atrophy III, spinal muscular atrophy type 3, spinal muscular atrophy-3, spinal muscular atrophy, familial, spinal muscular atrophy, type III, spinal muscular atrophy, type III, modifier of — per MONDO
Also identified as
- DOID 12376 per MONDO
- ICD9 335.11 per MONDO
- NCIT C118847 per MONDO
- OMIM 253400 per MONDO
- Orphanet 83419 per MONDO
- SCTID 54280009 per MONDO
- UMLS C0152109 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 |