Proximal spinal muscular atrophy type 4
Synonyms: SMA type 4 · SMA type IV · SMA-IV · SMA4 · Spinal muscular atrophy, adult form
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adult
- Status
- active
A rare genetic motor neuron disorder characterized by degeneration of alpha motor neurons in the spinal cord and lower brainstem. Proximal spinal muscular atrophy (SMA) type 4 is a rare subtype which manifests after 18 years of age with mild proximal muscle weakness.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Proximal spinal muscular atrophy type 4 | SMA type 4 · SMA type IV · SMA-IV · SMA4 · Spinal muscular atrophy, adult form |
| fr | Amyotrophie spinale proximale type 4 | SMA4 · Amyotrophie spinale proximale de l'adulte · SMA type 4 · SMA type IV |
| de | Spinale Muskelatrophie, proximale, Typ 4 | SMA Typ 4 · SMA Typ IV · SMA-IV · SMA4 · Spinale Muskelatrophie, adulte |
| es | Atrofia muscular espinal proximal tipo 4 | AME tipo 4 · AME tipo IV · AME-IV · AME4 · Atrofia muscular espinal del adulto · SMA tipo 4 · SMA tipo IV · SMA-IV · SMA4 |
| it | Atrofia muscolare spinale prossimale, tipo 4 | Atrofia muscolare spinale, forma dell'adulto · SMA, tipo 4 · SMA, tipo IV · SMA-IV · SMA4 |
| nl | Proximale spinale spieratrofie type 4 | Proximale spinale musculaire atrofie type 4 · SMA type 4 · SMA type IV · SMA-IV · SMA4 · Spinale musculaire atrofie, volwassen vorm · Spinale spieratrofie, volwassen vorm |
| pt | Atrofia muscular espinhal proximal tipo 4 | Atrofia muscular espinhal do adulto |
| pl | Rdzeniowy zanik mięśni typu 4 | Rdzeniowy zanik mięśni, postać dorosła · SMA typu 4 · SMA typu IV · SMA4 · SMA-IV |
| cs | Proximální spinální svalová atrofie, typ 4 | SMA typ 4 · SMA typ IV · SMA-IV · SMA4 · Spinální svalová atrofie, adultní forma |
| uk | Проксимальна спінальна мязова атрофія, тип 4 | SMA тип 4 · SMA типу IV · SMA4 · SMA-IV · Спинальна мязова атрофія, доросла форма |
| zh | 近端脊髓肌萎缩4型 | 成年型脊髓性肌萎缩症 |
| tr | Proksimal spinal kas atrofisi tip 4 | SMA4 · SMA-IV · SMA tip 4 · SMA tip IV · Spinal kas atrofisi, Erişkin formu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 271150 | E | validated | |
| ICD-10 | G12.1 | NTBT | inclusion | validated |
| ICD-11 | 8B61.3 | E | specific | validated |
| MONDO | 0010056 | E | validated | |
| MeSH | C563948 | E | validated | |
| UMLS | C1838230 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:70Proximal spinal muscular atrophy
rare genetic diseases; rare neurological diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SMN1 | Disease-causing germline mutation(s) in | Assessed | HGNC:11117 | ENSG00000172062 | 600354 | 5q13.2 | survival of motor neuron 1, telomeric | 20301526[PMID] |
| SMN2 | Modifying germline mutation in | Assessed | HGNC:11118 | ENSG00000205571 | 601627 | 5q13.2 | survival of motor neuron 2, centromeric | 20301526[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | Unknown | — | Europe | Class only | Validated | ORPHANET |
| Point prevalence | Unknown | — | Europe | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/83420
- This record as JSON: /data/d/83420.json