Electroneuromyographical and morphological findings in progressive myoclonus epilepsy (PME)

The purpose of this study was to assess the function of peripheral nerves and muscles and to describe morphological changes in muscle biopsies of patients with progressive myoclonus epilepsy. Electroneuromyographic studies were performed on 24 adult patients whose mental and motor skills were either little, moderately or severely impaired by the disease. In 5 patients a specimen of tibial anterior muscle was morphologically and histochemically investigated. The electrophysiological functions of the peripheral nerves and muscles showed gradual increasing abnormalities parallel to the severity of clinical deterioration. The muscle biopsies of 2 patients showed signs compatible with peripheral neuropathy. These findings suggested that progressive myoclonus epilepsy may be related to a systemic membrane disorder.