ORPHA:209335
Autosomal dominant adult-onset proximal spinal muscular atrophy
Synonyms: Autosomal dominant adult-onset proximal SMA · Autosomal dominant late-onset spinal muscular atrophy, Finkel type · Finkel disease · SMAFK
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult, Elderly
- Status
- active
A rare, genetic, motor neuron disease characterized by adulthood-onset of slowly progressive, proximal muscular weakness with fasciculations, amyotrophy, cramps, and absent/hypoactive reflexes, without bulbar or pyramidal involvement.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant adult-onset proximal spinal muscular atrophy | Autosomal dominant adult-onset proximal SMA · Autosomal dominant late-onset spinal muscular atrophy, Finkel type · Finkel disease · SMAFK |
| fr | Amyotrophie spinale proximale autosomique dominante de l'adulte | Maladie de Finkel · SMAFK |
| de | Proximale spinale Muskelatrophie mit Beginn im Erwachsenenalter, autosomal-dominante | Finkel-Krankheit · Proximale SMA, autosomal-dominante, mit Beginn im Erwachsenenalter · SMAFK · Spinale Muskelatrophie mit Beginn im Erwachsenenalter, autosomal-dominante, Typ Finkel |
| es | Atrofia muscular espinal proximal autosómica dominante de inicio en el adulto | AME proximal autosómica dominante de inicio en el adulto · Atrofia muscular espinal autosómica dominante tipo Finkel de inicio tardío · Enfermedad de Finkel · SMAFK |
| it | Atrofia muscolare spinale prossimale autosomica dominante ad esordio nell'età adulta | Malattia di Finkel |
| nl | Autosomaal dominante proximale spinale musculaire atrofie met aanvang bij volwassenen | Autosomaal dominante proximale SMA met aanvang bij volwassenen · Autosomaal dominante proximale spinale spieratrofie met aanvang bij volwassenen · Autosomaal dominante spinale musculaire atrofie met late aanvang, Finkel-type · SMAFK · Ziekte van Finkel |
| pt | Atrofia muscular espinhal proximal autossómica dominante de início no adulto | |
| pl | Proksymalny rdzeniowy zanik mięśni o początku w wieku dorosłym, autosomalny dominujący | Choroba Finkela |
| cs | Proximální spinální svalová atrofie nastupující v dospělosti, autozomálně dominantní | Finkelova nemoc |
| uk | Аутосомно-домінантна проксимальна спінальна мязова атрофія, що починається в дорослому віці | Аутосомно-домінантний проксимальний СМА, що починається у дорослому віці · Аутосомно-домінантна пізня спінальна мязова атрофія, тип Фінкеля · Хвороба Фінкеля · SMAFK |
| zh | 常染色体显性遗传成人起病的近端脊髓性肌萎缩症 | 常染色体显性遗传迟发性脊髓性肌萎缩症Finkel型 |
| tr | Otozomal dominant yetişkin başlangıçlı proksimal spinal musküler atrofi | SMAFK · Finkel hastalığı · Otozomal baskın erişkin başlangıçlı proksimal SMA · Otozomal baskın geç başlangıçlı spinal müsküler atrofi, Finkel tipi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 182980 | E | validated | |
| ICD-10 | G12.1 | NTBT | attributed | validated |
| ICD-11 | 8B61.Y | NTBT | index | validated |
| MONDO | 0008453 | E | validated | |
| MeSH | C566673 | E | validated | |
| UMLS | C1854058 | 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:211037Autosomal dominant proximal spinal muscular atrophy
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| VAPB | Disease-causing germline mutation(s) in | Assessed | HGNC:12649 | ENSG00000124164 | 605704 | 20q13.32 | VAMP associated protein B and C | 15372378[PMID]_24212516[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.1 / 100 000 | Europe | Value and class | Not yet 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.
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HPO phenotypes
20 annotations · validated 2023-03-06| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001284 | Areflexia | |
| HP:0003551 | Difficulty climbing stairs | |
| HP:0003445 | EMG: neuropathic changes | |
| HP:0002380 | Fasciculations | |
| HP:0012378 | Fatigue | |
| HP:0003391 | Gowers sign | |
| HP:0002505 | Loss of ambulation | |
| HP:0003394 | Muscle spasm | |
| HP:0007126 | Proximal amyotrophy | |
| Occasional (29-5%) | ||
| HP:0008981 | Calf muscle hypertrophy | |
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0001387 | Joint stiffness | |
| HP:0007340 | Lower limb muscle weakness | |
| HP:0002486 | Myotonia | |
| HP:0002362 | Shuffling gait | |
| HP:0001883 | Talipes | |
| HP:0001337 | Tremor | |
| HP:0003484 | Upper limb muscle weakness | |
| HP:0002515 | Waddling gait | |
| Excluded (0%) | ||
| HP:0002483 | Bulbar signs | |
Annotation source: 1578236[PMID]_7258225[PMID]_15372378[PMID]_
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/209335
- This record as JSON: /data/d/209335.json