Congenital and childhood XXXX : Current aspects of disease and future directions.

@entity1 @entity717 @entity6045 @entity3986 @entity344 @entity2147 @entity74 @entity3918 @entity25
UNASSIGNED: @entity3918 type 1 ( @entity6045 ) is multisystem disease arising from mutant CTG expansion in the non-translating region of the @entity3918 protein kinase gene. While @entity6045 is the most common adult @entity3986 , with a worldwide prevalence of one in eight thousand, age of onset varies from before birth to adulthood. There is a broad spectrum of clinical severity, ranging from mild to severe, which correlates with number of DNA repeats. Importantly, the early clinical manifestations and management in congenital and childhood @entity6045 differ from classic adult @entity6045 . In neonates and @entity1 , @entity6045 predominantly affects muscle strength, cognition, @entity344 . @entity25 are often under recognised yet a significant morbidity. No effective disease modifying treatment is currently available and neonates and @entity1 with @entity6045 may experience severe physical and @entity717 , which may be life limiting in the most severe forms. Management is currently supportive, incorporating regular surveillance and treatment of manifestations. Novel therapies, which target the gene and the pathogenic mechanism of abnormal splicing are emerging. Genetic counselling is critical in this @entity74 with variable penetrance and potential maternal anticipation, as is assisting with family planning and undertaking cascade testing to instigate health surveillance in affected family members. This review incorporates discussion of the clinical manifestations and management of congenital and childhood @entity6045 , with a particular focus on @entity2147 and @entity25 . In addition, the molecular genetics, mechanisms of disease pathogenesis and development of novel treatment strategies in @entity6045 will be summarised.
