肌张力减退和肌无力婴儿的概述
- Authors
- Olaf A Bodamer, MD, PhD, FAAP, FACMG
Olaf A Bodamer, MD, PhD, FAAP, FACMG
- Park Gerald Chair in Genetics and Genomics
- Associate Chief, Genetics and Genomics
- Boston Children’s Hospital/Harvard Medical School
- Geoffrey Miller, MD
Geoffrey Miller, MD
- Professor of Pediatrics and Neurology
- Yale University
- Section Editors
- Marc C Patterson, MD, FRACP
Marc C Patterson, MD, FRACP
- Section Editor — Pediatric Neurology
- Professor of Neurology, Pediatrics, and Medical Genetics
- Chair, Division of Child and Adolescent Neurology
- Mayo Clinic College of Medicine
- Richard Martin, MD
Richard Martin, MD
- Section Editor — Neonatology
- Professor, Pediatrics, Reproductive Biology, and Physiology & Biophysics
- Case Western Reserve University School of Medicine
- Deputy Editor
- Carrie Armsby, MD, MPH
Carrie Armsby, MD, MPH
- Senior Deputy Editor — UpToDate
- Deputy Editor — Pediatrics
- University of Massachusetts School of Medicine
- Translators
- 王来栓, 主任医师
王来栓, 主任医师
- 复旦大学附属儿科医院新生儿科
引言
神经肌肉疾病常见于肌张力减退和肌无力的新生儿或婴儿中。但许多常见的疾病(如，脓毒症、器官功能衰竭及代谢功能紊乱)也可以有这些表现。若将后面这些情况予以排除，那么肌张力减退则可能由原发性神经肌肉疾病引起。
肌张力减退和肌无力婴儿的评估总结在此。由周围神经和肌肉疾病引起的肌张力减退和肌无力的原因(表 1)，以及某些特殊的神经肌肉疾病的评估将在别处讨论。 (参见“致新生儿肌张力低下外周神经肌肉疾病概述”)
病史
产科及围产期病史可能为神经肌肉疾病的诊断提供信息。患有神经肌肉疾病的婴儿往往有胎儿期羊水过多(由胎儿吞咽羊水减少引起)、胎儿运动不能(胎动减少)及胎先露异常(常为臀位)等病史。
分娩时可能并发产伤或围产期抑郁。虽然这些并发症也可见于正常婴儿，但患有先天性神经肌肉疾病的婴儿可能更难以耐受与临产和分娩相关的应激，因而更易受到出生抑郁的影响。
由于很多此类疾病都具有遗传性，所以神经肌肉异常的家族史可能提供大量信息。家族性神经肌肉疾病包括：先天性强直性肌营养不良、脊髓性肌萎缩、代谢性疾病(如，线粒体病、酸性麦芽糖酶缺乏症、肌酸合成障碍)及家族性自主神经功能障碍。
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