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肌肉萎缩症。

Muscular Dystrophies.

机构信息

Division of Pulmonary, Critical Care and Sleep Medicine, MetroHealth Medical Center, Case Western Reserve University School of Medicine, 2500 MetroHealth Drive, Cleveland, OH 44019, USA.

Division of Pediatric Pulmonology, John R. Oishei Children's Hospital, University at Buffalo, 955 Main Street, Buffalo, NY 14203, USA.

出版信息

Clin Chest Med. 2018 Jun;39(2):377-389. doi: 10.1016/j.ccm.2018.01.004.

Abstract

Muscular dystrophies represent a complex, varied, and important subset of neuromuscular disorders likely to require the care of a pulmonologist. The spectrum of conditions encapsulated by this subset ranges from severe and fatal congenital muscular dystrophies with onset in infancy to mild forms of limb and girdle weakness with onset in adulthood and minimal respiratory compromise. The list and classification of muscular dystrophies are undergoing near-constant revision, based largely on new insights from genetics and molecular medicine. The authors present an overview of the muscular dystrophies, including their basic features, common clinical phenotypes, and important facets of management.

摘要

肌肉萎缩症是神经肌肉疾病中一个复杂、多样且重要的亚类,可能需要肺病专家的护理。这个亚类所包含的疾病范围从婴儿期发病的严重和致命的先天性肌肉萎缩症到成年期发病的轻度肢体和腰带无力以及最小的呼吸功能障碍。肌肉萎缩症的列表和分类正在根据遗传学和分子医学的新见解进行近乎持续的修订。作者对肌肉萎缩症进行了概述,包括其基本特征、常见的临床表型以及管理的重要方面。

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