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A pedigree with essential myoclonus and genetic spastic oligophrenia *
Author(s) -
Böök J. A.,
Sjögren Torsten
Publication year - 1970
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1970.tb01971.x
Subject(s) - myoclonus , genetic counseling , spastic , pediatrics , medicine , heterozygote advantage , genetics , biology , gene , psychiatry , allele , cerebral palsy
A pedigree with 7 cases affected with essential myoclonus and 3 cases affected with genetic spastic oligophrenia is reported. These two conditions show independent segregation. Essential myoclonus is apparently a very rare syndrome. Where the few earlier and relevant reports are considered, this syndrome is operationally defined and explained as probably caused by a single major gene difference with clinical manifestation in about 60 per cent of heterozygotes. For counseling purposes the genetic risks for children of one affected parent and for siblings of an affected child appear to be about 30 per cent. The data, however, are still scanty and more exact information about this syndrome is needed.