先天性肌强直。

Q4 Medicine
J. C. Mangla, A. Sehgal
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引用次数: 0

摘要

先天性肌强直是一种遗传性神经肌肉疾病,其特征是肌肉在自主收缩后不能迅速放松。这种情况从儿童早期就存在,但症状可能很轻微。当父母第一次注意到孩子肌肉僵硬时,大多数孩子都是2岁或3岁,尤其是腿部,通常是由于休息后突然活动引起的。这种疾病不会导致肌肉萎缩;事实上,它可能会导致肌肉肿大。肌肉力量增强。这里有两种形式的障碍:贝克型,这是最常见的形式;以及一种罕见且较温和的T - homsen氏病。这种疾病是由负责关闭肌肉电兴奋的基因突变引起的。Qeios·Definition, 2019年11月11日
本文章由计算机程序翻译,如有差异,请以英文原文为准。
MYOTONIA CONGENITA.
Myotonia congenita is an inherited neuromuscular disorder characterized by the inability of muscles to quickly relax after a voluntary contraction. T he condition is present from early childhood, but symptoms can be mild. Most children will be 2 or 3 years old when parents first notice their muscle stiffness, particularly in the legs, often provoked by sudden activity after rest. T he disease doesn’t cause muscle wasting; in fact, it may cause muscle enlargement. Muscle strength is increased. T here are two forms of the disorder: Becker-type, which is the most common form; and T homsen’s disease, which is a rare and milder form. T he disorder is caused by mutations in a gene responsible for shutting off electrical excitation in the muscles. Qeios · Definition, November 11, 2019
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来源期刊
CiteScore
0.10
自引率
0.00%
发文量
0
期刊介绍: The Journal of the Indian Medical association, popularly known as JIMA, an indexed (in index medicus) monthly journal, has the largest circulation (over 1.75 lakh Copies per month) of all the indexed and other medical journals of India and abroad. This journal is also available in microfilm through Bell & Howels, USA. The founder leaders of this prestigious journal include Late Sir Nilratan Sircar, Dr Bidhan Chandra Roy, Dr Kumud Sankar Ray and other scholars and doyens of the medical profession. It started in the pre-independence era (1930) with only 122 doctors.
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