Myotone dystrofie op de kinderleeftijd

Myotonic dystrophy type 1 is an autosomal dominant disease, which affects multiple organ systems. Clinical symptoms in young children are non-specific, and include learning disabilities, behavioural problems and fatigue. Myotonic dystrophy type 1 is characterised by the phenomenon “anticipation”: the occurrence of increasing severity of disease and lower age of onset in successive generations. Early diagnosis and treatment of early-onset symptoms in the patient and in family members is essential. Genetic counselling of all family members regarding hereditary risks is important. This article provides insight into the diagnosis of myotonic dystrophy in childhood.

Conflict of interest and financial support: none declared.