Association of progressive myoclonic epilepsy and spinal muscular atrophy

Abstract

It is well known that certain hereditary diseases of the nervous system sometimes occur concurrently within particular families. This report presents a Yugoslav family of Hungarian origin in whom 2 brothers had progressive myoclonic epilepsy and proximal weakness and atrophy of muscles. Electromyography and muscle biopsy confirmed neurogenic atrophy. Electroencephalography disclosed paroxysmal spike-and-wave and polyspike-and-wave complexes with photic-induced myoclonic jerking. The combination of these clinical features is extremely rare and probably constitutes a clinical syndrome that has not been reported previously. © 1993.