无症状和寡症状状态的dysferlinopathy的症状
Sergey N Bardakov1, Roman V Deev2,3,4, Vadim A Tsargush1
1S.M. Kirov Military Medical Academy, St. Petersburg, Russia.
Journal of neuromuscular diseases
|February 20, 2025
概括
肌肉发育不良症是一种DYSF基因突变引起的肌肉发育不良症,最初呈现为无症状的CK高血症. 早期症状包括肌酸激酶 (CK) 和乳酸脱酶 (LDH) 的升高,在寡症状阶段进展为轻度症状.
科学领域:
- 神经学 神经学
- 遗传学 遗传学 是一个
- 生物化学 生物化学
背景情况:
- 脊髓功能障碍是一种遗传性肌肉发育不良,由DYSF基因突变引起.
- 它的特点是表型异质性和血清肌酸激酶 (CK) 的升高.
- 超CK血症可以存在于无症状或低症状状态.
研究的目的:
- 描述患有无症状和小症状异线症的儿科患者的临床和实验室发现.
- 根据一系列病例,提出一种基于异性细分症疾病进展的两阶段模型.
- 为了表征表现前阶段的dysferlinopathy.
主要方法:
- 八名儿科患者 (3-14岁) 患有DYSF基因突变的病例系列.
- 对体征和症状的临床评估.
- 实验室分析包括血清CK,LDH,ALT和肌球蛋白.
- 量化MRI分析和植物学.
主要成果:
- 确定了两个阶段:无症状的CK高血,肌细胞分解的实验室综合征 (CK,LDH升高) 和寡症状阶段 (CK,LDH,ALT,肌球蛋白升高;脂肪透最小;脚支改变;小腿肌肉疲劳;力量和反射减弱).
- 七名患者共享 homozygous DYSF 突变;一个患有复合异构基因突变.
- 无症状的CK高血症和小症状的呈现代表了预先显现的dysferlinopathy的连续性.
结论:
- 线病变通过不同的无症状和小症状阶段进展.
- 早期发现CK高血症和微妙的临床症状对于识别预先显现的病例至关重要.
- 了解这些早期阶段有助于管理和潜在地干预dysferlinopathy进展.
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