Autosomal dominant congenital benign spinal muscular atrophy
Synonyms: Autosomal dominant benign distal spinal muscular atrophy · Congenital benign spinal muscular atrophy with contractures · Congenital nonprogressive spinal muscular atrophy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare distal hereditary motor neuropathy, with a variable clinical phenotype, typically characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy and congenital (or early-onset) flexion contractures of the hip, knee and ankle joints. Reduced or absent lower limb deep tendon reflexes, skeletal anomalies (bilateral talipes equinovarus, scoliosis, kyphoscoliosis, lumbar hyperlordisis), late ambulation, waddling gait, joint hyperlaxity and/or bladder and bowel dysfuntion are usually also associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant congenital benign spinal muscular atrophy | Autosomal dominant benign distal spinal muscular atrophy · Congenital benign spinal muscular atrophy with contractures · Congenital nonprogressive spinal muscular atrophy |
| fr | Amyotrophie spinale bénigne congénitale autosomique dominante | Amyotrophie spinale bénigne congénitale avec contractures · Amyotrophie spinale congénitale non progressive · Amyotrophie spinale distale bénigne autosomique dominante |
| de | Kongenitale benigne spinale Muskelatrophie, autosomal-dominante Form | Kongenitale benigne spinale Muskelatrophie mit Krampfanfällen · Spinale Muskelatrophie, benigne, autosomal-dominante · Spinale Muskelatrophie, kongenitale nicht-progressive |
| es | Atrofia muscular espinal benigna congénita autosómica dominante | Atrofia muscular espinal benigna congénita con contracturas · Atrofia muscular espinal congénita no regresiva · Atrofia muscular espinal distal benigna autosómica dominante |
| it | Atrofia muscolare spinale congenita benigna autosomica dominante | |
| nl | Autosomaal dominante congenitale goedaardige spinale spieratrofie | Autosomaal dominante goedaardige distale spinale spieratrofie · Congenitale goedaardige spinale spieratrofie met contracturen · Congenitale niet-progressieve spinale spieratrofie |
| pt | Atrofia muscular espinhal congénita benigna autossómica dominante | |
| pl | Autosomalny dominujący wrodzony łagodny rdzeniowy zanik mięśni | Wrodzony niepostępujący rdzeniowy zanik mięśni · Autosomalny dominujący łagodny rdzeniowy zanik mięśni dystalnych · Wrodzony łagodny rdzeniowy zanik mięśni z przykurczami |
| cs | Autozomálně dominantní vrozená benigní spinální svalová atrofie | Vrozená benigní spinální svalová atrofie s kontrakturami · Vrozená neprogresivní spinální svalová atrofie · Autozomálně dominantní benigní distální spinální svalová atrofie |
| uk | Аутосомно-домінантна вроджена доброякісна спінальна мязова атрофія | Аутосомно-домінантна доброякісна дистальна спінальна мязова атрофія · Вроджена доброякісна спінальна мязова атрофія з контрактурами · Вроджена непрогресуюча спінальна мязова атрофія |
| zh | 常染色体显性遗传先天性良性脊髓性肌萎缩 | 先天性良性脊髓性肌萎缩伴挛缩 |
| tr | Otozomal dominant doğumsal selim spinal müsküler atrofi | Doğumsal ilerleyici olmayan spinal kas atrofi · Otozomal dominant selim distal spinal kas atrofisi · Kontraktürlü doğumsal selim spinal kas atrofisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 600175 | E | validated | |
| ICD-10 | G12.1 | NTBT | attributed | validated |
| ICD-11 | 8B61.4 | NTBT | index | validated |
| MONDO | 0010839 | E | validated | |
| MeSH | C563981 | E | validated | |
| UMLS | C1838492 | E | validated | |
| GARD | 1474 | 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:140465Autosomal dominant distal hereditary motor neuropathy
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TRPV4 | Disease-causing germline mutation(s) in | Assessed | HGNC:18083 | ENSG00000111199 | 605427 | 12q24.11 | transient receptor potential cation channel subfamily V member 4 | 24830047[PMID]_22526352[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
5 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0004326 | Cachexia | |
| HP:0003693 | Distal amyotrophy | |
| HP:0001252 | Hypotonia | |
| HP:0001387 | Joint stiffness | |
| HP:0008964 | Nonprogressive muscular atrophy | |
Run the differential on the 5 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1216
- This record as JSON: /data/d/1216.json