Spinocerebellar ataxia type 42
Synonyms: SCA42
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood, Elderly
- Status
- active
A rare, autosomal dominant cerebellar ataxia characterized by pure and slowly progressive cerebellar signs combining gait instability, dysarthria, nystagmus, saccadic eye movements and diplopia. Less frequent clinical signs and symptoms include spasticity, hyperreflexia, decreased distal vibration sense, urinary urgency or incontinence and postural tremor.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spinocerebellar ataxia type 42 | SCA42 |
| fr | Ataxie spinocérébelleuse type 42 | = en |
| de | Ataxie, spinozerebelläre, Typ 42 | = en |
| es | Ataxia espinocerebelosa tipo 42 | |
| it | Atassia spinocerebellare tipo 42 | |
| nl | Spinocerebellaire ataxie type 42 | |
| pt | Ataxia espinocerebelosa tipo 42 | = en |
| pl | Ataksja rdzeniowo-móżdżkowa typ 42 | SCA typ 42 |
| cs | Spinocerebelární ataxie, typ 42 | = en |
| uk | Спіноцеребеллярна атаксія, тип 42 | = en |
| zh | 脊髓小脑共济失调42型 | = en |
| tr | Spinoserebellar ataksi tip 42 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616795 | E | validated | |
| ICD-10 | G11.8 | NTBT | attributed | validated |
| MONDO | 0014776 | E | validated | |
| UMLS | C4225205 | 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 (2):
- ORPHA:94148Autosomal dominant cerebellar ataxia type III
rare genetic diseases; rare neurological diseases - ORPHA:98745Neurological channelopathy of the central nervous system due to a genetic calcium channel defect
rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CACNA1G | Disease-causing germline mutation(s) in | Assessed | HGNC:1394 | ENSG00000006283 | 604065 | 17q21.33 | calcium voltage-gated channel subunit alpha1 G | 26456284[PMID]_26715324[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 25 cases | Worldwide | Case(s) | Validated | 26456284[PMID]_26715324[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26456284[PMID]_26715324[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
32 annotations · validated 2018-04-23| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001317 | Abnormal cerebellum morphology | |
| HP:0001260 | Dysarthria | |
| HP:0012759 | Neurodevelopmental abnormality | |
| HP:0002317 | Unsteady gait | |
| Frequent (79-30%) | ||
| HP:0003487 | Babinski sign | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0006855 | Cerebellar vermis atrophy | |
| HP:0000716 | Depression | |
| HP:0002015 | Dysphagia | |
| HP:0031166 | Eyelid myokymia | |
| HP:0002066 | Gait ataxia | |
| HP:0007979 | Gaze-evoked horizontal nystagmus | |
| HP:0006938 | Impaired vibration sensation at ankles | |
| HP:0001152 | Saccadic smooth pursuit | |
| HP:0002064 | Spastic gait | |
| HP:0000012 | Urinary urgency | |
| Occasional (29-5%) | ||
| HP:0002511 | Alzheimer disease | |
| HP:0007366 | Atrophy/Degeneration affecting the brainstem | |
| HP:0000651 | Diplopia | |
| HP:0002346 | Head tremor | |
| HP:0030890 | Hyperintensity of cerebral white matter on MRI | |
| HP:0000571 | Hypometric saccades | |
| HP:0000802 | Impotence | |
| HP:0000639 | Nystagmus | |
| HP:0003765 | Psoriasiform dermatitis | |
| HP:0012708 | Reduced brain N-acetyl aspartate level by MRS | |
| HP:0002322 | Resting tremor | |
| HP:0002650 | Scoliosis | |
| HP:0000486 | Strabismus | |
| HP:0007351 | Upper limb postural tremor | |
| HP:0000020 | Urinary incontinence | |
| HP:0002321 | Vertigo | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 26456284[PMID]_26715324[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/458803
- This record as JSON: /data/d/458803.json