Ascertainment of @entity3918 through XXXX by selective screening.

@entity1 @entity3918 @entity231 @entity2175
@entity3918 ( @entity3918 ) almost always results from the expansion of an unstable (CTG)n repeat. The mutation can be detected directly. Affected @entity1 with @entity231 may have minimal additional signs of the disorder, but all are at risk of life threatening complications. We have studied the efficacy of detecting new families with @entity3918 by selectively screening @entity231 @entity1 . Selection criteria were: age under 60 with no obvious precipitating factor (except @entity2175 ( @entity2175 )); @entity1 of any age with other signs suggestive of @entity3918 detected by the ophthalmologist. Ninety-six @entity1 were tested prospectively; 17 others under 55 were screened retrospectively. All @entity1 were counselled by a clinical geneticist before testing. The @entity1 ' DNA was analysed using the DNA probe/restriction enzyme combinations GB2.6/EcoRI, KB1.4/BglI and polymerase chain reaction (PCR). Six @entity1 have been found to have a mutation, three (3.1%) in the prospective group and three (17.6%) in the retrospective group. Three of these @entity1 had minimal @entity3918 and three had classical @entity3918 .
