婴儿肌张力障碍评估

最后审阅: 12 Nov 2024
最后更新: 22 Jun 2023

小结

鉴别诊断

常见

  • 婴儿一过性特发性肌张力障碍
  • 婴儿良性阵发性斜颈
  • 先天性斜颈
  • 原发性发作性运动诱发的运动障碍
  • 药物相关的肌张力不全
  • 运动障碍型脑性瘫痪
  • 外伤后肌张力障碍
  • 非致死性溺水
  • 原发性刻板行为
  • 继发性刻板行为
  • 继发性婴儿斜颈
  • 癫痫发作
完整详情

不常见

  • 原发性阵发性非运动诱发的肌张力障碍
  • 儿童交替性偏瘫(AHC)
  • DYT-TOR1A(原发性扭转性张力障碍)
  • 多巴反应性肌张力障碍(即 Segawa 综合征、昼夜波动性肌张力障碍帕金森病)
  • 阵发性运动诱发的运动障碍葡萄糖转运蛋白 1 (GLUT1)
  • 多巴胺转运体缺乏综合征(DYT/PARK-SLC6A3,婴儿帕金森综合征-肌张力障碍)
  • 核黄疸
  • 戊二酸尿症 1 型(戊二酰辅酶 A 脱氢酶 [GCDH] 缺乏)
  • 甲基丙二酸血症
  • Lesch-Nyhan综合征/自毁容貌综合征
  • 婴儿GM2神经节苷脂沉积病(Tay-Sachs和Sandhoff病)
  • 线粒体脑肌病
  • 生物素-硫胺素反应性基底神经节疾病 (DYT-SLC19A3)
  • 多巴胺 - 5-羟色胺囊泡转运疾病
  • 获得性发作性运动诱发的运动障碍 (PKD)
  • 获得性发作性非运动诱发性运动障碍 (PNKD)
  • 神经变性伴脑铁蓄积 (NBIA),包括泛酸激酶相关神经变性 (PKAN)
  • 脑白质营养不良/髓鞘发育不良
  • Aicardi-Goutieres综合征
完整详情

撰稿人

作者

Kenneth Silver, MD, MSc
Kenneth Silver

Pediatric Neurologist

Shriners Children’s Chicago

Chicago

IL

利益声明

KS is an author of a reference cited in this topic and is a member of the medical advisory board for the Alternating Hemiplegia of Childhood Foundation, a non-profit organisation.

Sho Yano, MD, PhD

Pediatric Neurologist

Medical Geneticist

Bethesda

MD

利益声明

SY is a member of the medical advisory board for the Alternating Hemiplegia of Childhood Foundation, a non-profit organisation.

鸣谢

The authors wish to acknowledge the contribution of Muruvet Elkay, MD to this topic.

利益声明

ME declares that she has no competing interests.

同行评议者

Suman Ghosh, MD, MPA

Associate Professor of Pediatrics

University of Florida

Gainesville

FL

利益声明

SG declares that he has no competing interests.

Joanna Blackburn, MD

Assistant Professor

Pediatrics (Neurology and Epilepsy)

Ann & Robert H. Lurie Children’s Hospital of Chicago

Chicago

IL

利益声明

JB declares that she has no competing interests.

John Mink, MD, PhD

Associate Professor

Neurobiology, Anatomy and Pediatrics

University of Rochester

Strong Memorial Hospital

Rochester

NY

利益声明

JM is an author of a number of references cited in this topic.

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