Proximal spinal muscular atrophy type 1
Synonyms: Infantile spinal muscular atrophy · Infantile-onset spinal muscular atrophy · SMA type 1 · SMA type I · SMA-I · SMA1 · Werdnig-Hoffmann disease
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare genetic motor neuron disorder characterized by degeneration of alpha motor neurons in the spinal cord and lower brainstem manifesting within the first six months of life with severe and progressive muscle weakness, including respiratory insufficiency and dysphagia. Classically, before the introduction of disease-modifying therapies, patients with proximal spinal muscular atrophy (SMA) type 1 never achieved independent sitting.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Proximal spinal muscular atrophy type 1 | Infantile spinal muscular atrophy · Infantile-onset spinal muscular atrophy · SMA type 1 · SMA type I · SMA-I · SMA1 · Werdnig-Hoffmann disease |
| fr | Amyotrophie spinale proximale type 1 | Amyotrophie spinale infantile · Amyotrophie spinale à début infantile · Maladie de Werdnig-Hoffmann · SMA type 1 · SMA type I · SMA-I · SMA1 |
| de | Spinale Muskelatrophie, proximale, Typ 1 | SMA Typ I · SMA-I · SMA1 · Spinale Muskelatrophie, infantile · Werdnig-Hoffman-Krankheit · SMA Typ 1 |
| es | Atrofia muscular espinal proximal tipo 1 | AME tipo 1 · AME tipo I · AME-I · AME1 · Atrofia muscular espinal de inicio en la infancia · Atrofia muscular espinal infantil · Enfermedad de Werdnig-Hoffmann · SMA tipo 1 · SMA tipo I · SMA-I · SMA1 |
| it | Atrofia muscolare spinale prossimale, tipo 1 | Atrofia muscolare spinale ad esordio infantile · Atrofia muscolare spinale infantile · Malattia di Werdnig-Hoffmann · SMA, tipo 1 · SMA, tipo I · SMA-I · SMA1 |
| nl | Proximale spinale spieratrofie type 1 | Infantiele spinale spieratrofie · SMA type 1 · SMA type I · SMA-I · SMA1 · Spinale musculaire atrofie met aanvang op zuigelingenleeftijd · Ziekte van Werdnig-Hoffmann |
| pt | Atrofia muscular espinhal proximal tipo 1 | Atrofia muscular espinhal infantil · Doença de Werdnig-Hoffman · SMA tipo 1 |
| pl | Rdzeniowy zanik mięśni typu 1 | Choroba Werdniga i Hoffmanna · Dziecięcy rdzeniowy zanik mięśni · SMA typu 1 · SMA typu I · SMA1 · SMA-I |
| cs | Proximální spinální svalová atrofie, typ 1 | Infantilní spinální svalová atrofie · SMA typ 1 · SMA typ I · SMA-I · SMA1 · Werdnigova-Hoffmanova nemoc · Werdnig-Hoffmanova nemoc |
| uk | Проксимальна спінальна мязова атрофія, тип 1 | Інфантильна спінальна мязова атрофія · Інфантильна спінальна мязова атрофія · SMA тип 1 · SMA тип I · SMA1 · SMA-I · Хвороба Вердніга-Гофмана |
| zh | 近端脊髓肌萎缩1型 | 婴儿型脊髓性肌萎缩症 |
| tr | Proksimal spinal kas atrofisi tip 1 | SMA1 · SMA-I · SMA türü 1 · SMA tip I · Werdnig-Hoffmann hastalığı · İnfantil spinal kas atrofisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 253300 | E | validated | |
| ICD-10 | G12.0 | E | specific | validated |
| ICD-11 | 8B61.0 | E | specific | validated |
| MONDO | 0009669 | E | validated | |
| UMLS | C5848259 | E | validated | |
| GARD | 7883 | 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
3 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] |
| NAIP | Modifying germline mutation in | Assessed | HGNC:7634 | ENSG00000249437 | 600355 | 5q13.2 | NLR family apoptosis inhibitory protein | 11912351[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 | 1-9 / 1 000 000 | 0.26 / 100 000 | Europe | Value and class | Not yet validated | ORPHANET |
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only | Not yet 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/83330
- This record as JSON: /data/d/83330.json