Spinocerebellar ataxia with epilepsy

MONDO:0016809

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.

Also known as: MSCAE, SCAE, mitochondrial spinocerebellar ataxia with epilepsy

23 clinical trials for this condition and its sub-types, 1 tagged with Spinocerebellar ataxia with epilepsy itself.

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Where it sits in the disease tree

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↑ Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (1)

Including sub-types (23) Tagged with Spinocerebellar ataxia with epilepsy (1)

Trials to join now! 1

Worldwide data pool could pave the way for mitochondrial disease trials

Knowledge-focused Recruiting now

This study creates a global registry for people with mitochondrial disorders—rare diseases that affect energy production in cells. By collecting health data from 6,000 participants worldwide, researchers aim to understand how these diseases progress and identify the best ways to …

Sponsor: LMU Klinikum • Aim: Knowledge-focused

Last updated Aug 09, 2026 00:00 UTC

Spinocerebellar ataxia with epilepsy

Where it sits in the disease tree

Worldwide data pool could pave the way for mitochondrial disease trials