[Familial myoclonus-renal failure syndrome].
In 1986 Andermann et al. described a syndrome presenting with renal failure, myoclonus, cerebellar symptoms, and epilepsy. They presumed a hereditary cause. We describe the first appearance of this syndrome in Europe, affecting three family members with comparable symptoms. Two of these patients were treated by us, and the third, already decreased, is described according to the available reports. The first clinical symptoms were manifested between the ages of 14 and 20. A female patient suffered from compensated kidney insufficiency and her two brothers aged 18 and 26 required dialysis. Biopsy of kidney tissue revealed nonspecific nephritis. All cases showed a cerebellar syndrome and action myoclonus. Two of them were diagnosed with epilepsy and grand mal seizures, and all suffered from demyelinizing or mixed polyneuropathy. Anamnesis of the family seems to indicate autosomal recessive inheritance.
Rothdach
A J
AJ
Max Planck-Institut für Psychiatrie, Sektion Neurologie, München. r.biniek@lvr.de
Dietl
T
T
Kümpfel
T
T
Gottschalk
M
M
Schumann
E M
EM
Trenkwalder
C
C
D000293:Adolescent; D000328:Adult; D002526:Cerebellar Diseases / Q000175:diagnosis / Q000235:genetics; D002869:Chromosome Aberrations; D004569:Electroencephalography; D004827:Epilepsy / Q000175:diagnosis / Q000235:genetics*; D004830:Epilepsy, Tonic-Clonic / Q000175:diagnosis / Q000235:genetics; D005260:Female; D005808:Genes, Recessive / Q000235:genetics; D006801:Humans; D007676:Kidney Failure, Chronic / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D009207:Myoclonus / Q000175:diagnosis / Q000235:genetics*; D009460:Neurologic Examination; D010375:Pedigree; D013577:Syndrome
Familiäres Myoklonus-Niereninsuffizienz-Syndrom.