Progressive myoclonic epilepsy type 5

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Synonyms: EPM5 | PME type 5 | Progressive myoclonus epilepsy type 5

A rare genetic neurological disorder characterized by early-onset progressive ataxia associated with myoclonic seizures generalized tonic-clonic seizures (which are often sleep-related) and normal to mild intellectual disability. Dysarthria upward gaze palsy sensory neuropathy developmental delay and autistic disorder have also been associated.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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Progressive myoclonic epilepsy type 5?

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