Bonouvrié K, Panis B
Zuyderland, afd. Kindergeneeskunde, Sittard-Geleen.
Ned Tijdschr Geneeskd. 2016;160:A9932.
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.
1型强直性肌营养不良是一种常染色体显性疾病,会影响多个器官系统。幼儿的临床症状不具有特异性,包括学习障碍、行为问题和疲劳。1型强直性肌营养不良的特征是“遗传早现”现象:在连续几代人中,疾病严重程度增加且发病年龄降低。对患者及其家庭成员的早发症状进行早期诊断和治疗至关重要。对所有家庭成员进行有关遗传风险的遗传咨询很重要。本文深入探讨了儿童期强直性肌营养不良的诊断。