ORPHA:139518
Distal hereditary motor neuropathy type 1
Synonyms: Autosomal dominant distal juvenile spinal muscular atrophy type 1 · dHMN1
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
Distal hereditary motor neuropathy type 1 is a rare neuromuscular disease characterized by slowly-progressive lower limb muscular weakness and atrophy, without sensory impairment. Additional clinical features may include pes cavus, hammertoe and increased muscle tone.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Distal hereditary motor neuropathy type 1 | Autosomal dominant distal juvenile spinal muscular atrophy type 1 · dHMN1 |
| fr | Neuropathie motrice distale héréditaire type 1 | Atrophie musculaire spinale distale juvénile autosomique dominante type 1 · dHMN1 |
| de | Neuropathie, distale hereditäre motorische, Typ 1 | Spinale Muskelatrophie, distale, juvenile, autosomal-dominante, Typ 1 · dHMN1 |
| es | Neuropatía motora distal hereditaria tipo 1 | Atrofia muscular espinal distal juvenil autosómica dominante tipo 1 · dHMN1 |
| it | Neuropatia motoria ereditaria distale, tipo 1 | Atrofia muscolare spinale distale giovanile, autosomica dominante, tipo 1 · dHMN1 |
| nl | Distale hereditaire motorische neuropathie type 1 | Autosomaal dominante distale juveniele spinale spieratrofie type 1 · dHMN1 |
| pt | Neuropatia, motora, distal, hereditária, tipo 1 | |
| pl | Dystalna dziedziczna neuropatia ruchowa typu 1 | Autosomalny dominujący dystalny młodzieńczy rdzeniowy zanik mięśni typu 1 · dHMN1 |
| cs | Distální hereditární motorická neuropatie, typ 1 | dHMN1 · Autozomálně dominantní distální juvenilní spinální svalová atrofie, typ 1 |
| uk | Дистальна спадкова моторна нейропатія, тип 1 | Аутосомно-домінантна дистальна юнацька спінальна мязова атрофія, тип 1 · dHMN1 |
| zh | 远端型遗传性运动神经病1型 | 常染色体显性遗传远端脊髓性肌萎缩1型 |
| tr | Distal kalıtsal motor nöropati tip 1 | dHMN1 · Otozomal dominant distal jüvenil spinal kas atrofisi tip 1 |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 182960 | E | validated | |
| ICD-10 | G12.2 | NTBT | attributed | validated |
| ICD-11 | 8B61.4 | NTBT | index | validated |
| MONDO | 0008451 | E | validated | |
| MeSH | C566675 | E | validated | |
| UMLS | C1866784 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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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.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/139518
- This record as JSON: /data/d/139518.json