[Progressive familial myoclonic epilepsy with bulbo-spinal amyotrophy. Clinical, electrophysiological study, and biopsy of a case].

Two brothers with Progressive myoclonic epilepsy and Juvenile bulbar and spinal atrophy had clinical, neurophysiological study and muscle biopsy. The EEG and polygraphic findings included progressive slowing of the background activity, spontaneous fast generalised spike- and wave discharges and photosensitivity. The EMG revealed pathological spontaneous activity as well as motor unit potentials diminished in number and increased in amplitude and duration; while VDCS and VDCM were normal. Results of muscle biopsy showed no represented "ragged red fibers" with the modified Trichrome stain, while grouped small caliber angular fibers of both histochemical type were visible with the myofibrillar ATPase reaction, but type 2 fibers predominated amongst the atrophic ones. Serum and urine metabolic measurement and lysosomal enzyme activities in leukocytes were all normal. We feel that the reported case might represent a familial syndrome not previously recognized showing non-specific degenerative changes with neuropathological examination. This disorder is similar only to the case reported by Lance J.W. and Ewans W.A. in 1984 "Progressive myoclonic epilepsy, nerve deafness and muscular atrophy".