Spinocerebellar ataxia type 43
Synonyms: SCA43
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult, Elderly
- Status
- active
Spinocerebellar ataxia type 43 is a rare autosomal dominant cerebellar ataxia type I disorder characterized by late adult-onset of slowly progressive cerebellar ataxia, typically presenting with balance and gait disturbances, in association with axonal peripheral neuropathy resulting in reduced/absent deep tendon reflexes and sensory impairment. Lower limb pain and amyotrophy may be present, as well as various cerebellar signs, including dysarthria, nystagmus, hypometric saccades and tremor.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spinocerebellar ataxia type 43 | SCA43 |
| fr | Ataxie spinocérébelleuse type 43 | = en |
| de | Spinozerebelläre Ataxie Typ 43 | = en |
| es | Ataxia espinocerebelosa tipo 43 | = en |
| it | Atassia spinocerebellare tipo 43 | |
| nl | Spinocerebellaire ataxie type 43 | = en |
| pt | Ataxia espinocerebelosa tipo 43 | = en |
| pl | Ataksja rdzeniowo-móżdżkowa typ 43 | SCA typ 43 |
| cs | Spinocerebelární ataxie, typ 43 | = en |
| uk | Спіноцеребеллярна атаксія, тип 43 | = en |
| zh | 脊髓小脑共济失调43型 | = en |
| tr | Spinoserebellar ataksi tip 43 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617018 | E | validated | |
| ICD-10 | G11.2 | NTBT | attributed | validated |
| ICD-11 | 8A03.16 | NTBT | attributed | validated |
| MONDO | 0014867 | E | validated | |
| UMLS | C4310763 | 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:94145Autosomal dominant cerebellar ataxia type I
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MME | Disease-causing germline mutation(s) in | Assessed | HGNC:7154 | ENSG00000196549 | 120520 | 3q25.2 | membrane metalloendopeptidase | 27583304[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 27583304[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27583304[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
22 annotations · validated 2018-04-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0009053 | Distal lower limb muscle weakness | |
| HP:0008959 | Distal upper limb muscle weakness | |
| HP:0003477 | Peripheral axonal neuropathy | |
| Frequent (79-30%) | ||
| HP:0001284 | Areflexia | |
| HP:0002396 | Cogwheel rigidity | |
| HP:0003387 | Decreased number of large peripheral myelinated nerve fibers | |
| HP:0003693 | Distal amyotrophy | |
| HP:0002936 | Distal sensory impairment | |
| HP:0001260 | Dysarthria | |
| HP:0009027 | Foot dorsiflexor weakness | |
| HP:0002066 | Gait ataxia | |
| HP:0000571 | Hypometric saccades | |
| HP:0001265 | Hyporeflexia | |
| HP:0002070 | Limb ataxia | |
| HP:0012531 | Pain | |
| HP:0000768 | Pectus carinatum | |
| HP:0001761 | Pes cavus | |
| HP:0007141 | Sensorimotor neuropathy | |
| HP:0002317 | Unsteady gait | |
| Occasional (29-5%) | ||
| HP:0006855 | Cerebellar vermis atrophy | |
| HP:0002073 | Progressive cerebellar ataxia | |
| Excluded (0%) | ||
| HP:0000726 | Dementia | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 28855494[PMID]_27583304[PMID]_26991897[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/497764
- This record as JSON: /data/d/497764.json