Progressive myoclonic epilepsy type 9

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Synonyms: EPM9 | PME type 9 | Progressive myoclonic epilepsy due to LMNB2 deficiency | Progressive myoclonus epilepsy type 9

A rare genetic neurological disorder characterized by childhood-onset severe myoclonic and tonic-clonic seizures and early-onset ataxia leading to severe gait disturbances associated with normal to slightly diminished cognition. Scoliosis diffuse muscle atrophy and subcutaneous fat loss as well as developmental delay may be associated. Brain MRI may reveal complete agenesis of the corpus callosum ventriculomegaly interhemispheric cysts and simplified gyration (frontally).

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 Data version July 2024

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