ORPHA:139536
Distal hereditary motor neuropathy type 5
Synonyms: Distal HMN V · Distal hereditary motor neuropathy type V · Distal spinal muscular atrophy type 5 · dHMN5
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare autosomal dominant distal hereditary motor neuropathy disease characterized by muscle weakness and wasting predominantly affecting the hands, in particular the thenar and first dorsal interosseus muscles, and/or marked foot deformity and gait disturbance. Sensation is normal, although reduced response to vibration has been described. The disease is slowly progressive with an age of onset within the first few decades of life.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Distal hereditary motor neuropathy type 5 | Distal HMN V · Distal hereditary motor neuropathy type V · Distal spinal muscular atrophy type 5 · dHMN5 |
| fr | Neuropathie motrice distale héréditaire type 5 | Amyotrophie spinale distale type 5 · Neuropathie motrice distale héréditaire type V · dHMN5 |
| de | Neuropathie, distale hereditäre motorische, Typ 5 | Distale HMNV · Neuropathie, distale hereditäre motorische, Typ V · Spinale Muskelatrophie, distale, Typ 5 · dHMN5 |
| es | Neuropatía motora distal hereditaria tipo 5 | Atrofia muscular espinal distal tipo 5 · HMN V distal · Neuropatía motora distal hereditaria tipo V · dHMN5 |
| it | Neuropatia motoria distale ereditaria tipo 5 | Atrofia muscolare spinale distale tipo 5 · HMN V distale · Neuropatia motoria ereditaria distale tipo V · dHMN5 |
| nl | Distale hereditaire motorische neuropathie type 5 | Distale spinale musculaire atrofie type 5 · Distale spinale spieratrofie type 5 · dHMN5 · Distale HMN V · Distale erfelijke motorische neuropathie type V |
| pt | Neuropatia motora distal hereditária tipo 5 | Atrofia muscular espinhal distal tipo 5 · HMN V distal |
| pl | Dystalna dziedziczna neuropatia ruchowa typu 5 | dHMN5 · Dystalna HMN V · Dystalny rdzeniowy zanik mięśni typu 5 · Dystalna dziedziczna neuropatia ruchowa typu V |
| cs | Distální hereditární motorická neuropatie, typ 5 | Distální spinální svalová atrofie, typ 5 · dHMN5 |
| uk | Дистальна спадкова моторна нейропатія, тип 5 | dHMN5 · Дистальна спадкова моторна нейропатія типу V · Дистальний HMN V · Дистальна спінальна мязова атрофія, тип 5 |
| zh | 远端型遗传性运动神经病5型 | 远端遗传性运动神经病5型 |
| tr | Distal kalıtsal motor nöropati tip 5 | dHMN5 · Distal HMN V · Distal spinal kas atrofi tip 5 · Distal kalıtsal motor nöropati tip V |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 600794 | BTNT | validated | |
| OMIM | 614751 | BTNT | validated | |
| OMIM | 619112 | BTNT | validated | |
| ICD-10 | G12.2 | NTBT | attributed | validated |
| ICD-11 | 8B61.4 | NTBT | index | validated |
| MONDO | 0100350 | E | validated | |
| MeSH | C563443 | E | validated | |
| UMLS | C1833308 | 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
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| BSCL2 | Disease-causing germline mutation(s) in | Assessed | HGNC:15832 | ENSG00000168000 | 606158 | 11q12.3 | BSCL2 lipid droplet biogenesis associated, seipin | 14981520[PMID] |
| GARS1 | Disease-causing germline mutation(s) in | Assessed | HGNC:4162 | ENSG00000106105 | 600287 | 7p14.3 | glycyl-tRNA synthetase 1 | 20301420[PMID]_12690580[PMID] |
| REEP1 | Disease-causing germline mutation(s) in | Assessed | HGNC:25786 | ENSG00000068615 | 609139 | 2p11.2 | receptor accessory protein 1 | 22703882[PMID] |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
16 annotations · validated 2019-02-13| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0003435 | Cold-induced hand cramps | |
| HP:0003693 | Distal amyotrophy | |
| HP:0009053 | Distal lower limb muscle weakness | |
| HP:0003426 | First dorsal interossei muscle atrophy | |
| HP:0003392 | First dorsal interossei muscle weakness | |
| HP:0002495 | Impaired vibratory sensation | |
| HP:0007178 | Motor polyneuropathy | |
| HP:0003393 | Thenar muscle atrophy | |
| HP:0003427 | Thenar muscle weakness | |
| HP:0002317 | Unsteady gait | |
| HP:0003484 | Upper limb muscle weakness | |
| Occasional (29-5%) | ||
| HP:0001765 | Hammertoe | |
| HP:0001347 | Hyperreflexia | |
| HP:0001761 | Pes cavus | |
| HP:0008081 | Pes valgus | |
| Very rare (<4-1%) | ||
| HP:0040131 | Abnormal motor nerve conduction velocity | |
Annotation source: 22703882[PMID]_8541851[PMID]_16427281[PMID]_15358725[PMID]_18790819[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/139536
- This record as JSON: /data/d/139536.json