Proximal spinal muscular atrophy type 3
Synonyms: Juvenile spinal muscular atrophy · Kugelberg-Welander disease · SMA type 3 · SMA type III · SMA-III · SMA3
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood, Infancy
- Status
- active
A rare genetic motor neuron disorder characterized by degeneration of alpha motor neurons in the spinal cord and lower brainstem manifesting between 18 months and 18 years of age and associated with slowly progressive, predominantly proximal muscle weakness. By definition, individuals with proximal spinal muscular atrophy (SMA) type 3 achieve independent ambulation before symptom onset, but ambulation may be lost over the course of the disease.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Proximal spinal muscular atrophy type 3 | Juvenile spinal muscular atrophy · Kugelberg-Welander disease · SMA type 3 · SMA type III · SMA-III · SMA3 |
| fr | Amyotrophie spinale proximale type 3 | Amyotrophie spinale proximale juvénile · Maladie de Kugelberg-Welander · SMA type 3 · SMA type III · SMA3 |
| de | Spinale Muskelatrophie, proximale, Typ 3 | Kugelberg-Welander-Krankheit · SMA Typ 3 · SMA Typ III · SMA-III · SMA3 · Spinale Muskelatrophie, juvenile |
| es | Atrofia muscular espinal proximal tipo 3 | AME tipo 3 · AME tipo III · AME-III · AME3 · Atrofia muscular espinal juvenil · Enfermedad de Kugelberg-Welander · SMA tipo 3 · SMA tipo III · SMA-III · SMA3 |
| it | Atrofia muscolare spinale prossimale, tipo 3 | SMA, tipo 3 · SMA, tipo III · SMA-III · SMA3 · Atrofia muscolare spinale giovanile · Malattia di Kugelberg-Welander |
| nl | Proximale spinale spieratrofie type 3 | Juveniele spinale spieratrofie · Proximale spinale musculaire atrofie type 3 · SMA type 3 · SMA type III · SMA-III · SMA3 · Ziekte van Kugelberg-Welander |
| pt | Atrofia muscular espinhal proximal tipo 3 | Atrofia muscular espinhal juvenil · Doença de Kugelberg-Welander |
| pl | Rdzeniowy zanik mięśni typu 3 | Choroba Kugelberga i Welandera · Młodzieńczy rdzeniowy zanik mięśni · SMA typu 3 · SMA typu III · SMA3 · SMA-III |
| cs | Proximální spinální svalová atrofie, typ 3 | Juvenilní spinální svalová atrofie · Kugelbergova-Welanderové nemoc · SMA typ 3 · SMA typ III · SMA-III · SMA3 · Kugelberg-Welanderové nemoc |
| uk | Проксимальна спінальна мязова атрофія, тип 3 | Ювенільна спінальна мязова атрофія · Хвороба Кугельберга-Веландера · SMA тип 3 · SMA тип III · SMA3 · SMA-III |
| zh | 近端脊髓肌萎缩3型 | 幼年型脊髓性肌萎缩 |
| tr | Proksimal spinal kas atrofisi tip 3 | SMA3 · SMA-III · SMA tip 3 · SMA tip III · Kugelberg-Welander hastalığı · jüvenil spinal kas atrofisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 253400 | E | validated | |
| ICD-10 | G12.1 | NTBT | inclusion | validated |
| ICD-11 | 8B61.2 | E | specific | validated |
| MONDO | 0009672 | E | validated | |
| UMLS | C0152109 | E | validated | |
| GARD | 198 | 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 |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.6623 / 100 000 | Italy | Value and class | Validated | 1483045[PMID] |
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only | Validated | 28676062[PMID]_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/83419
- This record as JSON: /data/d/83419.json