Epilessia mioclonica progressiva e deficit di alfa-distroglicano: un fenotipo clinico emergente?

We describe two females presenting with progressive myoclonic epilepsy (PME), with onset within the first year of life, quickly progressive neurocognitive deterioration and cortical and cerebellar atrophy. EEG showed a peculiar alpha-like pattern. Muscular biopsy revelead alpha-dystroglycan deficit. Dystroglycanopathies should be added to the group of diseases responsible for PMEs.