Myotonic dystrophy:: muscle involvement in relation to disease type and size of expanded CTG-repeat sequence
Myotonic dystrophy:: muscle involvement in relation to disease type and size of expanded CTG-repeat sequence
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DOI：
10.1017/s0012162205000927
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发表时间：
2005-07-01
影响因子：
3.8
通讯作者：
Tulinius, M
中科院分区：
文献类型：
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作者：
Kroksmark, AK;Ekström, AB;Tulinius, M
本研究旨在：将患有强直性肌营养不良（强直性肌营养不良：DM）的儿童和青少年队列分为先天性和儿童期发作形式;估计CTG扩张大小;量化DM儿童的肌肉力量、挛缩和运动功能，并将结果与对照组进行比较。参与者进行了临床检查，医疗记录进行了审查，等长肌力，挛缩和运动功能进行了测量。与会者包括：42名DM儿童（18名女性，24名男性;平均年龄8岁9个月[SD 4岁7个月]，范围10个月至17岁）和42名年龄和性别匹配的健康对照。糖尿病儿童分为三组：重度先天性糖尿病（n = 13）、轻度先天性糖尿病（n = 15）和儿童期糖尿病（n=14）。儿童期糖尿病儿童明显弱于对照组（腕和踝背屈肌[分别为p= 0.0044，p =0.0044];髋外展肌和屈肌[p= 0.0464，p =0.02171;膝屈肌和伸肌：Lp= 0.0382，p =0.0033]）。轻度先天性糖尿病儿童在所有评估的肌肉群中明显弱于对照组。挛缩和骨骼畸形在调查时比出生时更常见，这表明足部和脊柱畸形特别是随着时间的推移而增加。糖尿病儿童的运动功能评分显著低于对照组。重度先天性DM患儿运动功能最差，运动功能与CTG重复序列大小相关（p=-0.743）。孩子们发现跳跃，脚跟站立和抬头是最困难的项目，但很少有人在行走，跑步或爬楼梯时有困难。儿童糖尿病是一种异质性疾病，具有广泛的肌肉受累，由于挛缩和骨骼畸形的风险增加，建议定期随访。
This study aimed to: classify a cohort of children and adolescents with myotonic dystrophy (dystrophia myotonica: DM) into congenital and childhood onset forms; estimate CTG expansion size; and quantify muscle strength, contractures, and motor function in children with DM and compare results with those of controls. Participants were clinically examined, medical records were reviewed, and isometric muscle strength, contractures, and motor function were measured. Participants were: 42 children with DM (18 females, 24 males; mean age 8y 9mo [SD 4y 7mo], range 10mo to 17y) and 42 age- and sex-matched, healthy controls. Children with DM were divided into three groups: severe congenital (n = 13), mild congenital (n = 15), and childhood (n=14). Children with childhood DM were significantly weaker than controls (wrist and ankle dorsiflexors [p=0.0044,p=0.0044 respectively]; hip abductors and flexors [p=0.0464,p=0.02171; and knee flexors and extensors: Lp=0.0382,p=0.0033]). Children with mild congenital DM were significantly weaker than controls in all assessed muscle groups. Contractures and skeletal deformities were more frequent at time of investigation than at birth, suggesting that foot and spine deformities in particular increase over time. Motor function score was significantly lower for children with DM than for controls. Children with severe congenital DM had the lowest motor function, with correlation between motor function and size of CTG repeat (p=-0.743). Children found jumping, heel standing, and head lifting the most difficult items to perform but few had difficulty walking, running, or stair climbing. DM in children is a heterogeneous disorder with a wide spectrum of muscle involvement, and owing to increased risk of contractures and skeletal deformities, regular follow-ups are recommended.