Distal spinal muscular atrophy type 3
Synonyms: Autosomal recessive distal spinal muscular atrophy type 3 · Distal hereditary motor neuropathy type 3 and type 4 · dHMN3 and dHMN4 · dSMA3
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood, Infancy
- Status
- active
Distal spinal muscular atrophy type 3 is a rare neuromuscular disease characterized by progressive muscular weakness and atrophy predominantly affecting distal parts of limbs, later involvement of proximal and trunk muscles with marked hyperlordosis and late diaphragmatic dysfunction.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Distal spinal muscular atrophy type 3 | Autosomal recessive distal spinal muscular atrophy type 3 · Distal hereditary motor neuropathy type 3 and type 4 · dHMN3 and dHMN4 · dSMA3 |
| fr | Amyotrophie spinale distale type 3 | Amyotrophie spinale distale autosomique récessive type 3 · Atrophie musculaire spinale distale autosomique récessive type 3 · Neuropathie motrice distale héréditaire types 3 et 4 · dHMN3 et dHMN4 · dSMA3 |
| de | Spinale Muskelatrophie, distale, Typ 3 | Autosomal-rezessive distale spinale Muskelatrophie Typ 3 · Muskelatrophie, distale spinale, Typ 3 · Neuropathie, distale hereditäre motorische, Typ 3 und Typ 4 · dHMN3 und dHMN4 · dSMA3 |
| es | Atrofia muscular espinal distal tipo 3 | Atrofia muscular espinal distal autosómica recesiva tipo 3 · Neuropatía motora hereditaria distal tipo 3 y tipo 4 · dHMN3 y dHMN4 · dSMA3 |
| it | Atrofia muscolare spinale distale, tipo 3 | Atrofia muscolare spinale distale, autosomica recessiva, tipo 3 · Neuropatia motoria ereditaria distale, tipi 3 e 4 · dHMN3 e dHMN4 · dSMA3 |
| nl | Distale spinale spieratrofie type 3 | dSMA3 · Autosomaal recessieve distale spinale musculaire atrofie type 3 · Autosomaal recessieve distale spinale spieratrofie type 3 · Distale erfelijke motorische neuropathie type 3 en type 4 · Distale spinale musculaire atrofie type 3 · dHMN3 en dHMN4 |
| pt | Atrofia muscular espinhal distal tipo 3 | Neuropatia motora distal hereditária tipo 3 e tipo 4 |
| pl | Dystalny rdzeniowy zanik mięśni typu 3 | Autosomalny recesywny dystalny rdzeniowy zanik mięśni typu 3 · dHMN3 and dHMN4 · dSMA3 · Dystalna dziedziczna neuropatia ruchowa typu 3 i typu 4 |
| cs | Distální spinální svalová atrofie, typ 3 | Distální hereditární motorická neuropatie, typy 3 a 4 · dHMN3 a dHMN4 · dSMA3 · Autozomálně recesivní distální spinální svalová atrofie, typ 3 |
| uk | Дистальна спінальна мязова атрофія, тип 3 | Аутосомно-рецесивна дистальна спінальна мязова атрофія, тип 3 · dHMN3 та dHMN4 · Дистальна спадкова моторна нейропатія типу 3 і 4 · dSMA3 |
| zh | 远端脊髓性肌萎缩症3型 | 常染色体隐性遗传远端脊髓性肌萎缩症3型 |
| tr | Distal spinal müsküler atrofi tip 3 | dSMA3 · dHMN3 ve dHMN4 · Distal kalıtsal motor nöropati tip 3 ve tip 4 · Otozomal çekinik distal spinal kas atrofisi tip 3 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607088 | E | validated | |
| ICD-10 | G12.2 | NTBT | attributed | validated |
| ICD-11 | 8B61.4 | NTBT | index | validated |
| MONDO | 0011771 | E | validated | |
| MeSH | C564626 | E | validated | |
| UMLS | C1846823 | 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:140468Autosomal recessive distal hereditary motor neuropathy
rare genetic diseases; rare neurological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 28 cases | Worldwide | Case(s) | Validated | 512678[PMID]_12112104[PMID]_15054395[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_512678[PMID]_12112104[PMID]_15054395[PMID] |
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/139547
- This record as JSON: /data/d/139547.json