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Start free with EleplanSpinocerebellar ataxia with epilepsy
ORPHA:254881Disease
Also called MSCAE · Mitochondrial spinocerebellar ataxia with epilepsy · SCAE
What it is
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.
Key facts
- Age of onset
- Adolescent, Childhood
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Signs and symptoms
Common30–79%
28- Acute hepatic failure
- Anxiety
- Bilateral tonic-clonic seizure with focal onset
- Cerebral infarct
- Depression
- Dysarthria
- Dysdiadochokinesis
- Dysmetria
- Dystonia
- EEG with occipital epileptiform discharges
- Focal T2 hyperintense thalamic lesion
- Gait ataxia
- Gaze-evoked nystagmus
- Hemianopia
- Hyperalaninemia
- Increased circulating lactate concentration
- Migraine
- Movement abnormality of the tongue
- Myoclonus
- Myopathy
- Ophthalmoparesis
- Optic atrophy
- Progressive cerebellar ataxia
- Progressive encephalopathy
- Progressive neurologic deterioration
- Ptosis
- Sensory axonal neuropathy
- Tremor
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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