Pediatric neuromuscular channelopathies.

Q2 Medicine
Vinojini Vivekanandam, Pinki Munot, Dipa L Jayaseelan
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引用次数: 0

Abstract

Pediatric skeletal muscle channelopathies include a spectrum of conditions including nondystrophic myotonias and periodic paralyses. They are rare inherited conditions that can cause significant morbidity. They are characterized by episodic stiffness and weakness. While there is significant phenotypic variability, there are distinct diagnostic features. The nondystrophic myotonias encompass myotonia congenita, paramyotonia congenita, and sodium channel myotonia caused by mutations in chloride and sodium channels. The clinical manifestations vary across age groups and a small subset with sodium channel mutations may have severe presentation with fetal akinesia, laryngospasm, or congenital myopathy. The periodic paralyses include hypokalemic periodic paralysis, hyperkalemic periodic paralysis, and Andersen-Tawil syndrome. The phenotypic differences between the groups can be helpful in diagnosis. It is important to review the cardiac phenotype in Andersen-Tawil syndrome due to a risk of life-threatening cardiac arrhythmias. Early and accurate diagnosis utilizing clinical features aided by investigations is important across all the pediatric channelopathies, as effective symptomatic treatment is available and can substantially improve quality of life.

小儿神经肌肉通道病。
小儿骨骼肌通道病包括非萎缩性肌营养不良和周期性瘫痪等一系列疾病。它们是罕见的遗传性疾病,可导致严重的发病率。它们的特点是发作性僵硬和无力。虽然表型差异很大,但诊断特征却很明显。非营养性肌营养不良包括先天性肌营养不良、先天性副肌营养不良以及由氯离子和钠离子通道突变引起的钠离子通道肌营养不良。不同年龄组的临床表现各不相同,一小部分钠通道突变患者可能会出现胎儿肌无力、喉痉挛或先天性肌病等严重症状。周期性麻痹包括低钾周期性麻痹、高钾周期性麻痹和安德森-塔维尔综合征。各组之间的表型差异有助于诊断。由于安徒生-塔维尔综合征有可能导致危及生命的心律失常,因此对其心脏表型进行复查非常重要。在所有小儿通道病中,利用临床特征并辅以检查进行早期准确诊断非常重要,因为有效的对症治疗可以大大改善患者的生活质量。
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来源期刊
Handbook of clinical neurology
Handbook of clinical neurology Medicine-Neurology (clinical)
CiteScore
4.10
自引率
0.00%
发文量
302
期刊介绍: The Handbook of Clinical Neurology (HCN) was originally conceived and edited by Pierre Vinken and George Bruyn as a prestigious, multivolume reference work that would cover all the disorders encountered by clinicians and researchers engaged in neurology and allied fields. The first series of the Handbook (Volumes 1-44) was published between 1968 and 1982 and was followed by a second series (Volumes 45-78), guided by the same editors, which concluded in 2002. By that time, the Handbook had come to represent one of the largest scientific works ever published. In 2002, Professors Michael J. Aminoff, François Boller, and Dick F. Swaab took on the responsibility of supervising the third (current) series, the first volumes of which published in 2003. They have designed this series to encompass both clinical neurology and also the basic and clinical neurosciences that are its underpinning. Given the enormity and complexity of the accumulating literature, it is almost impossible to keep abreast of developments in the field, thus providing the raison d''être for the series. The series will thus appeal to clinicians and investigators alike, providing to each an added dimension. Now, more than 140 volumes after it began, the Handbook of Clinical Neurology series has an unparalleled reputation for providing the latest information on fundamental research on the operation of the nervous system in health and disease, comprehensive clinical information on neurological and related disorders, and up-to-date treatment protocols.
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