Association of progressive myoclonic epilepsy and spinal muscular atrophy.
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.
Marjanovic
B
B
Department of Pediatrics; Institute for Mother and Child Health Care of Serbia, Belgrade, Yugoslavia.
Todorovic
S
S
Dozic
S
S
D000293:Adolescent; D001706:Biopsy; D002648:Child; D002675:Child, Preschool; D004569:Electroencephalography; D004831:Epilepsies, Myoclonic / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D009132:Muscles / Q000473:pathology; D009210:Myofibrils / Q000648:ultrastructure; D009460:Neurologic Examination; D010641:Phenotype; D014897:Spinal Muscular Atrophies of Childhood / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology