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印度家族中的常染色体隐性遗传性贝克尔型先天性肌强直

Autosomal Recessive Becker's Form of Myotonia Congenita in Indian Families.

作者信息

Krovvidi Sahithi, Nelakurthi Srilaxmi, Gedela Mounika, Singamsetty Srinithya, Bhimireddy Vijayalakshmi

机构信息

Internal Medicine, NRI Medical College and General Hospital, Guntur, IND.

Pediatrics, NRI Medical College and General Hospital, Guntur, IND.

出版信息

Cureus. 2025 May 18;17(5):e84373. doi: 10.7759/cureus.84373. eCollection 2025 May.

DOI:10.7759/cureus.84373
PMID:40535402
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12176253/
Abstract

Myotonia congenita (MC), a rare inherited disease, is caused by variations in the skeletal muscle chloride voltage-gated channel one gene () and is characterized by symptoms of myotonia and muscle hypertrophy. We present a case report of two female patients aged nine and 10, from Andhra Pradesh, India, with a history of parental consanguinity, hypertrophy of arm and calf muscles, permanent weakness, and proximal muscle weakness. Patients were diagnosed with Becker's form of MC after genetic testing that reported the mutation c.1667T >A (p.lle556Asn) in exon 15 of the , which is a pathogenic variant. Treatment with mexiletine showed improvement in the condition of patients. Because of its inherent nature, parents were given genetic counseling and the choice of antenatal diagnosis for upcoming pregnancies.

摘要

先天性肌强直（MC）是一种罕见的遗传性疾病，由骨骼肌氯离子电压门控通道1基因（ ）的变异引起，其特征为肌强直和肌肉肥大症状。我们报告一例病例，两名来自印度安得拉邦的女性患者，年龄分别为9岁和10岁，有近亲结婚史，手臂和小腿肌肉肥大，存在永久性肌无力以及近端肌无力。经基因检测报告在 基因第15外显子存在c.1667T>A（p.Ile556Asn）突变，此为致病变异，两名患者被诊断为贝克尔型MC。美西律治疗使患者病情有所改善。鉴于该病的遗传性，已为其父母提供遗传咨询，并告知他们对于未来妊娠可选择产前诊断。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4430/12176253/06c9c4178401/cureus-0017-00000084373-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4430/12176253/b9b65b3afa0a/cureus-0017-00000084373-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4430/12176253/30dd22f10bbf/cureus-0017-00000084373-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4430/12176253/06c9c4178401/cureus-0017-00000084373-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4430/12176253/b9b65b3afa0a/cureus-0017-00000084373-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4430/12176253/30dd22f10bbf/cureus-0017-00000084373-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4430/12176253/06c9c4178401/cureus-0017-00000084373-i03.jpg

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本文引用的文献

1
Mexiletine versus lamotrigine in non-dystrophic myotonias: a randomised, double-blind, head-to-head, crossover, non-inferiority, phase 3 trial.美西律与拉莫三嗪治疗非营养不良性肌强直症的随机、双盲、头对头、交叉、非劣效性、3 期临床试验。
Lancet Neurol. 2024 Oct;23(10):1004-1012. doi: 10.1016/S1474-4422(24)00320-X.
2
A Detailed Clinical Approach to Non-dystrophic Myotonia: A Case Report of Two Brothers With Myotonia Congenita.非萎缩性肌强直的详细临床诊治方法：两例先天性肌强直兄弟的病例报告
Cureus. 2023 Jun 23;15(6):e40869. doi: 10.7759/cureus.40869. eCollection 2023 Jun.
3
Case report: Incomplete penetrance of autosomal dominant myotonia congenita caused by a rare variant c.1667T>A (p.I556N) in a Malaysian family.
病例报告：马来西亚一个家族中，罕见变异c.1667T>A（p.I556N）导致常染色体显性先天性肌强直的不完全外显。
Front Genet. 2023 Jan 3;13:972007. doi: 10.3389/fgene.2022.972007. eCollection 2022.
4
An Up-to-Date Overview of the Complexity of Genotype-Phenotype Relationships in Myotonic Channelopathies.强直性肌病通道病中基因型-表型关系复杂性的最新概述
Front Neurol. 2020 Jan 17;10:1404. doi: 10.3389/fneur.2019.01404. eCollection 2019.
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First familial Becker muscular dystrophy in Tanzania: Clinical and genetic features.坦桑尼亚首例家族性贝克型肌营养不良症：临床与遗传学特征。
Neuromuscul Disord. 2019 Apr;29(4):317-320. doi: 10.1016/j.nmd.2019.01.006. Epub 2019 Jan 25.
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A population-based epidemiologic study of adult neuromuscular disease in the Republic of Ireland.爱尔兰共和国成人神经肌肉疾病的基于人群的流行病学研究。
Neurology. 2017 Jan 17;88(3):304-313. doi: 10.1212/WNL.0000000000003504. Epub 2016 Dec 7.
7
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.序列变异解读的标准与指南：美国医学遗传学与基因组学学会和分子病理学协会的联合共识推荐
Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.
8
Moroccan consanguineous family with Becker myotonia and review.患有贝克尔型肌强直的摩洛哥近亲家族及文献综述
Ann Indian Acad Neurol. 2011 Oct;14(4):307-9. doi: 10.4103/0972-2327.91963.
9
Homozygosity for dominant mutations increases severity of muscle channelopathies.纯合显性突变可增加肌通道病的严重程度。
Muscle Nerve. 2010 Apr;41(4):470-7. doi: 10.1002/mus.21520.
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