ORPHA:211037
Autosomal dominant proximal spinal muscular atrophy
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Autosomal dominant
- Status
- active
A group of rare, genetic, motor neuron disease characterized by childhood or adult onset progressive, predominantly proximal, muscular weakness and wasting. Included diseases are Autosomal dominant adult-onset proximal spinal muscular atrophy, Lower motor neuron syndrome with late-adult onset, and Autosomal dominant childhood-onset proximal spinal muscular atrophy.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant proximal spinal muscular atrophy | |
| fr | Amyotrophie spinale proximale autosomique dominante | |
| de | Spinale Muskelatrophie, proximale, autosomal-dominante | |
| es | Atrofia muscular espinal proximal autosómica dominante | |
| it | Atrofia muscolare spinale prossimale, autosomica dominante | |
| nl | Autosomale dominante proximale spinale spieratrofie | Autosomale dominante proximale spinale musculaire atrofie |
| pt | Atrofia muscular espinhal proximal autossómica dominante | |
| pl | Autosomalny dominujący proksymalny rdzeniowy zanik mięśni | |
| cs | Autozomálně dominantní proximální spinální svalová atrofie | |
| uk | Аутосомно-домінантна проксимальна спінальна мязова атрофія | |
| zh | 常染色体显性遗传近端脊髓性肌萎缩 | |
| tr | Otozomal dominant proksimal spinal kas atrofisi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 16224 | E | validated | |
| UMLS | C5680856 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:98505Genetic motor neuron disease
rare genetic diseases; rare neurological diseases
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/211037
- This record as JSON: /data/d/211037.json