Sjögreen Lotta, Engvall Monica, Ekström Anne-Berit, Lohmander Anette, Kiliaridis Stavros, Tulinius Már
Mun-H-Center Orofacial Resource Centre for Rare Disorders and Department of Speech Pathology, Institute of Neuroscience and Physiology, Sahlgrenska Academy at Göteborg, Göteborg, Sweden.
Dev Med Child Neurol. 2007 Jan;49(1):18-22. doi: 10.1017/s0012162207000060.x.
Myotonic dystrophy (DM) is a neuromuscular disorder caused by an expansion of a CTG repeat sequence on chromosome 19q13. The aim of the present study was to describe the characteristics and prevalence of oral motor dysfunction in a cohort of children and adolescents with DM and to correlate different aspects of oral motor function with the type of DM and sex. Fifty-six individuals with DM (30 males, 26 females; median age 13y 2mo; range 2y 6mo-21y 5mo) were compared with healthy controls. They were divided into four subgroups: severe congenital DM (n=18); mild congenital DM (n=18); childhood DM (n=18); and classical DM (n=2). A speech-language pathologist assessed different variables of oral motor function, intelligibility, and lip force. The families used a questionnaire to report on eating difficulties and drooling. All individuals with DM had impaired facial expression. Intelligibility was moderately or severely reduced in 30 patients (60%), excluding six patients without speech. Most had a moderate or severe impairment of lip motility (76.0%), tongue motility (52.2%), and lip force (69.2%), causing deviant production of bilabial and dental consonants. The families reported problems with eating (51.9%) and drooling (37.0%). Oral motor dysfunction was most prominent in congenital DM, and males were more affected than females.
强直性肌营养不良（DM）是一种神经肌肉疾病，由19号染色体q13上CTG重复序列的扩增引起。本研究的目的是描述一组患有DM的儿童和青少年口腔运动功能障碍的特征和患病率，并将口腔运动功能的不同方面与DM的类型和性别相关联。将56名患有DM的个体（30名男性，26名女性；中位年龄13岁2个月；范围2岁6个月至21岁5个月）与健康对照进行比较。他们被分为四个亚组：严重先天性DM（n = 18）；轻度先天性DM（n = 18）；儿童DM（n = 18）；和经典DM（n = 2）。一名言语语言病理学家评估了口腔运动功能、可懂度和唇力的不同变量。家庭使用问卷报告进食困难和流口水情况。所有患有DM的个体都有面部表情受损。除6名无言语的患者外，30名患者（60%）的可懂度中度或严重降低。大多数患者唇运动（76.0%）、舌运动（52.2%）和唇力（69.2%）有中度或严重受损，导致双唇音和齿音发音异常。家庭报告了进食问题（51.9%）和流口水问题（37.0%）。口腔运动功能障碍在先天性DM中最为突出，男性比女性受影响更大。
