Scapuloperoneal spinal muscular atrophy
Synonyms: Neurogenic scapuloperoneal amyotrophy, New England type · SPSMA · Scapuloperoneal neuronopathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
A rare, genetic motor neuron disease characterized by predominantly motor axonal peripheral neuropathy manifesting with progressive scapuloperoneal muscular atrophy and weakness, laryngeal palsy, congenital absence of muscles, and, in some, skeletal abnormalities.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Scapuloperoneal spinal muscular atrophy | Neurogenic scapuloperoneal amyotrophy, New England type · SPSMA · Scapuloperoneal neuronopathy |
| fr | Amyotrophie spinale scapulopéronière | Amyotrophie scapulopéronière d'origine neurogène type New England · Neuronopathie scapulopéronière · SPSMA |
| de | Muskelatrophie, scapuloperoneale spinale | Neurogene scapuloperoneale Amyotrophie vom New England Typ · Neuropathie, scapulo-peroneale · SPSMA |
| es | Atrofia muscular espinal escapuloperoneal | Amiotrofia neurogénica escapuloperoneal tipo Nueva Inglaterra · Neuropatía escapuloperoneal · SPSMA |
| it | Atrofia muscolare spinale scapolo-peroneale | Amiotrofia scapolo-peroneale neurogena, tipo New England · Neuropatia scapolo-peroneale · SPSMA |
| nl | Scapuloperoneale spinale spieratrofie | Neurogene scapuloperoneale amyotrofie, New England-type · SPSMA · Scapuloperoneale neuropathie |
| pt | Atrofia muscular escapulo-peroneal espinhal | |
| pl | Łopatkowo-strzałkowy rdzeniowy zanik mięśni | Neurogenna amiotrofia łopatkowo-strzałkowa, typ N England · Neuronopatia łopatkowo-strzałkowa · SPSMA |
| cs | Skapuloperoneální spinální svalová atrofie | Neurogenní skapuloperoneální amyotrofie, typ Nová Anglie · SPSMA · Skapuloperoneální neuronopatie |
| uk | Атрофія мязів лопатково-підлопаткової ділянки хребта | Нейрогенна скапулоперонеальна аміотрофія, новоанглійський тип · Скапулоперонеальна нейронопатія · SPSMA |
| zh | 肩胛腓骨部脊髓性肌萎缩 | 新英格兰型神经源性肩胛腓骨部肌萎缩 |
| tr | Skapuloperoneal spinal müsküler atrofi | SPSMA · Skapuloperoneal nöronopati · Nörojenik skapuloperoneal amyotrofi, New England tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 181405 | E | validated | |
| ICD-10 | G12.1 | NTBT | inclusion | validated |
| ICD-11 | 8B61.4 | NTBT | index | validated |
| MONDO | 0008408 | E | validated | |
| UMLS | C0751335 | E | validated | |
| GARD | 10314 | 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:98505Genetic motor neuron disease
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TRPV4 | Disease-causing germline mutation(s) in | Assessed | HGNC:18083 | ENSG00000111199 | 605427 | 12q24.11 | transient receptor potential cation channel subfamily V member 4 | 20037587[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 31 cases | Worldwide | Case(s) | Validated | 26948711[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26948711[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/431255
- This record as JSON: /data/d/431255.json