raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:254881

Spinocerebellar ataxia with epilepsy

Synonyms: MSCAE · Mitochondrial spinocerebellar ataxia with epilepsy · SCAE

Type
Disease
Group
Disorder
Inheritance
Autosomal recessive
Age of onset
Adolescent, Childhood
Status
active

A rare, mitochondrial DNA maintenance syndrome characterized by cerebellar ataxia, sensory peripheral neuropathy, myoclonus, epilepsy, progressive cognitive impairment, late-onset ptosis and external ophthalmoplegia. Liver failure may also occur, most often in association with the use of antiepileptic drug sodium valproate.

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Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enSpinocerebellar ataxia with epilepsyMSCAE · Mitochondrial spinocerebellar ataxia with epilepsy · SCAE
frAtaxie spinocérébelleuse avec épilepsieAtaxie spinocérébelleuse mitochondriale avec épilepsie · MSCAE · SCAE
deSpinozerebelläre Ataxie mit EpilepsieMSCAE · Mitochondriale spinozerebelläre Ataxie mit Epilepsie · SCAE
esAtaxia espinocerebelosa con epilepsiaAtaxia espinocerebelosa mitocondrial con epilepsia · MSCAE · SCAE
itAtassia spinocerebellare con epilessiaAtassia spinocerebellare mitocondriale con epilessia · MSCAE · SCAE
nlSpinocerebellaire ataxie met epilepsieMSCAE · Mitochondriale spinocerebellaire ataxie met epilepsie · SCAE
ptAtaxia espinocerebelosa com epilepsiaSCAE
plAtaksja rdzeniowo-móżdżkowa z padaczkąMitochondrialna ataksja rdzeniowo-móżdżkowa z padaczką · MSCAE · SCAE
csSpinocerebelární ataxie s epilepsiíMSCAE · Mitochondriální spinocerebelární ataxie s epilepsií · SCAE
ukСпіноцеребеллярна атаксія при епілепсіїМітохондріальна спіноцеребелярна атаксія при епілепсії · MSCAE · SCAE
zh脊髓小脑共济失调伴癫痫线粒体脊髓小脑共济失调伴癫痫
trEpilepsi ile seyreden spinoserebellar ataksiSCAE · MSCAE · Epilepsi ile seyreden mitokondriyal spinoserebellar ataksi

Definition in:

2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM607459NTBTvalidated
ICD-10E88.8NTBTattributedvalidated
ICD-115C53.21NTBTindexvalidated
MONDO0016809Evalidated
MeSHC564395Evalidated
UMLSC1843852Evalidated

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 (2):

No children.

4

Genes

1 direct
GeneAssociationStatusHGNCEnsemblOMIMLocusNameSource of validation
POLGDisease-causing germline mutation(s) inAssessedHGNC:9179ENSG0000014052117476315q26.1DNA polymerase gamma, catalytic subunit15824347[PMID]
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Prevalence and incidence

0 records

No prevalence record in this release.

6

HPO phenotypes

28 annotations · validated 2023-01-13
HPOTerm (as annotated by Orphanet)Diagnostic
Frequent (79-30%)
HP:0006554Acute hepatic failure
HP:0000739Anxiety
HP:0007334Bilateral tonic-clonic seizure with focal onset
HP:0025722Cerebral infarct
HP:0000716Depression
HP:0001260Dysarthria
HP:0002075Dysdiadochokinesis
HP:0001310Dysmetria
HP:0001332Dystonia
HP:0033720EEG with occipital epileptiform discharges
HP:0012692Focal T2 hyperintense thalamic lesion
HP:0002066Gait ataxia
HP:0000640Gaze-evoked nystagmus
HP:0012377Hemianopia
HP:0003348Hyperalaninemia
HP:0002151Increased circulating lactate concentration
HP:0002076Migraine
HP:0000182Movement abnormality of the tongue
HP:0001336Myoclonus
HP:0003198Myopathy
HP:0000597Ophthalmoparesis
HP:0000648Optic atrophy
HP:0002073Progressive cerebellar ataxia
HP:0002448Progressive encephalopathy
HP:0002344Progressive neurologic deterioration
HP:0000508Ptosis
HP:0003390Sensory axonal neuropathy
HP:0001337Tremor

Annotation source: 26735972[PMID]_20301791[PMID]_23545419[PMID]_21956653[PMID]

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Sources for this card