Young adult-onset distal hereditary motor neuropathy
Synonyms: Autosomal recessive distal spinal muscular atrophy type 5 · Young adult-onset dHMN · dSMA5
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adult
- Status
- active
Young adult-onset distal hereditary motor neuropathy is a rare autosomal recessive distal hereditary motor neuropathy characterized by slowly progressive muscular weakness, hypotonia and atrophy of the lower limbs, more pronounced distally, leading to paralysis, and loss of tendon reflexes. Additional features may include pes cavus and mild dysphonia. The upper limbs are relatively spared.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Young adult-onset distal hereditary motor neuropathy | Autosomal recessive distal spinal muscular atrophy type 5 · Young adult-onset dHMN · dSMA5 |
| fr | Neuropathie motrice distale héréditaire de l'adulte jeune | Amyotrophie spinale distale autosomique récessive type 5 · Atrophie musculaire spinale distale autosomique récessive type 5 · dHMN de l'adulte jeune · dSMA5 |
| de | Neuropathie, distale kongenitale motorische, des jungen Erwachsenen | Spinale Muskelatrophie, distale, autosomal-rezessive, Typ 5 · dHMN des frühen Erwachsenenalters · dSMA5 |
| es | Neuropatía motora distal hereditaria de inicio en el adulto joven | Atrofia muscular espinal distal autosómica recesiva tipo 5 · dHMN de inicio en el adulto joven · dSMA5 |
| it | Neuropatia motoria ereditaria distale ad esordio nella prima età adulta | Atrofia muscolare spinale distale, autosomica recessiva, tipo 5 · dHMN a esordio nel giovane adulto · dSMA5 |
| nl | Distale hereditaire motorische neuropathie met aanvang in de vroege volwassenheid | Autosomaal recessieve distale spinale spieratrofie type 5 · dHMN met aanvang in de vroege volwassenheid · dSMA5 |
| pt | Neuropatia motora hereditária distal de ínicio no adulto jovem | Atrofia muscular espinhal distal autossómica recessiva tipo 5 |
| pl | Dystalna dziedziczna neuropatia ruchowa o początku u młodych dorosłych | Autosomalny recesywny dystalny rdzeniowy zanik mięśni typu 5 · dHMN o początku u młodych dorosłych · dSMA5 |
| cs | Dědičná motorická distální neuropatie s nástupem u mladých dospělých | dSMA5 · Autozomálně recesivní distální spinální muskulární atrofie typ 5 · DHMN se vznikem u mladých dospělých |
| uk | Дистальна спадкова моторна нейропатія, що починається у молодому віці | Аутосомно-рецесивна дистальна спінальна мязова атрофія, тип 5 · dSMA5 · dHMN у молодих дорослих |
| zh | 年轻成人起病遗传性远端运动神经元病 | 常染色体隐性远端脊髓肌肉萎缩5型 |
| tr | Genç erişkin başlangıçlı distal kalıtsal motor nöropati | dSMA5 · Genç erişkin-başlangıçlı dHMN · Otozomal çekinik distal spinal müsküler atrofi tip 5 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614881 | BTNT | validated | |
| OMIM | 619216 | BTNT | validated | |
| ICD-10 | G12.2 | NTBT | attributed | validated |
| MONDO | 13947 | E | validated | |
| UMLS | C4749918 | 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
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DNAJB2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:5228 | ENSG00000135924 | 604139 | 2q35 | DnaJ heat shock protein family (Hsp40) member B2 | 22522442[PMID] |
| VWA1 | Disease-causing germline mutation(s) in | Assessed | HGNC:30910 | ENSG00000179403 | 611901 | 1p36.33 | von Willebrand factor A domain containing 1 | 33559681[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 22522442[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 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/314485
- This record as JSON: /data/d/314485.json