ORPHA:139589
Distal hereditary motor neuropathy type 7
Synonyms: Distal spinal muscular atrophy with vocal cord paralysis · dHMN7
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Distal hereditary motor neuropathy type 7 | Distal spinal muscular atrophy with vocal cord paralysis · dHMN7 |
| fr | Neuropathie motrice distale héréditaire type 7 | Atrophie musculaire spinale distale avec paralysie des cordes vocales · dHMN7 |
| de | Neuropathie, distale motorische, hereditäre, Typ 7 | Spinale Muskelatrophie, distale, mit Stimmbandlähmung · dHMN7 |
| es | Neuropatía motora distal hereditaria tipo 7 | Atrofia muscular espinal distal con parálisis en las cuerdas vocales · dHMN7 |
| it | Neuropatia motoria ereditaria distale, tipo 7 | Atrofia muscolare spinale distale con paralisi delle corde vocali · dHMN7 |
| nl | Distale hereditaire motorische neuropathie type 7 | Distale spinale spieratrofie met stembandverlamming · dHMN7 |
| pt | Neuropatia, motora, distal, hereditária, tipo 7 | |
| pl | Dystalna dziedziczna neuropatia ruchowa typu 7 | dHMN7 · Dystalny rdzeniowy zanik mięśni z porażeniem strun głosowych |
| cs | Distální hereditární motorická neuropatie, typ 7 | dHMN7 · Distální spinální svalová atrofie s obrnou hlasivkových vazů |
| uk | Дистальна спадкова моторна нейропатія, тип 7 | dHMN7 · Дистальна спінальна мязова атрофія з паралічем голосових звязок |
| zh | 远端型遗传性运动神经病7型 | 远端脊髓性肌萎缩伴声带麻痹 |
| tr | Distal kalıtsal motor nöropati tip 7 | dHMN7 · Vokal kord paralizili distal spinal müsküler atrofi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 158580 | BTNT | validated | |
| OMIM | 607641 | BTNT | validated | |
| ICD-10 | G12.2 | NTBT | attributed | validated |
| ICD-11 | 8B61.4 | NTBT | index | validated |
| MONDO | 0015355 | E | validated | |
| UMLS | C4749653 | 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
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DCTN1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2711 | ENSG00000204843 | 601143 | 2p13.1 | dynactin subunit 1 | 12627231[PMID] |
| SLC5A7 | Disease-causing germline mutation(s) in | Assessed | HGNC:14025 | ENSG00000115665 | 608761 | 2q12.3 | solute carrier family 5 member 7 | 23141292[PMID] |
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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/139589
- This record as JSON: /data/d/139589.json