Co-Occurrence of Myotonic Dystrophy Type 1 and Limb-Girdle Muscular Dystrophy Type 2B: A Case Report

IF 0.9 4区医学 Q4 GENETICS & HEREDITY

Molecular Syndromology Pub Date : 2023-08-22 DOI:10.1159/000533219

Lucas Augusto Hauschild, Taciana Seixas Maia da Silva, Pablo Brea Winckler, Laércio Moreira Cardoso-Júnior, Jonas Alex Morales Saute, Karina Carvalho Donis

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引用次数: 0

Abstract

Introduction: Myotonic dystrophy type 1 (DM1) is an autosomal dominant neuromuscular disease whose pattern of weakness is predominantly distal. Limb-girdle muscular dystrophy type 2B/R2-dysferlin-related (LGMD2B/R2) is another neuromuscular disease, which presents an autosomal recessive inheritance and is marked by proximal muscle weakness. Even if uncommon, comorbid inherited pathologies must be considered in cases of atypical presentations, especially in those with family history of consanguinity. Case Presentation: Herein, we report the unique case of a patient diagnosed with both DM1 and LGMD2B/R2: a 38-year-old woman in follow-up of DM1 in a neuromuscular disease service presenting prominent proximal weakness. The patient’s parents were consanguineous, and creatine kinase levels were elevated. A multi-gene panel test was performed and revealed the diagnosis of LGMD2B/R2. Conclusion: Genetic diseases with atypical presentations should raise the possibility of a second disorder, prompting an appropriate investigation. Overlooking a second diagnosis can implicate in not offering adequate genetic counseling, support, or specific treatment.

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1型强直性肌营养不良与2B型肢带性肌营养不良共发1例

& lt; b> & lt; i>简介:& lt; / i> & lt; / b>1型肌强直性营养不良症(DM1)是一种常染色体显性神经肌肉疾病，其虚弱模式主要是远端。四肢带状肌营养不良2B/R2-异常蛋白相关(LGMD2B/R2)是另一种常染色体隐性遗传的神经肌肉疾病，以近端肌肉无力为特征。即使不常见，在非典型表现的情况下，也必须考虑共病遗传病理，特别是那些有血缘家族史的人。& lt; b> & lt; i>案例表示:& lt; / i> & lt; / b>在此，我们报告了一个诊断为DM1和LGMD2B/R2的患者的独特病例:一名38岁的女性在神经肌肉疾病服务的DM1随访中表现出明显的近端无力。患者的父母是近亲，肌酸激酶水平升高。进行多基因面板检测，诊断为LGMD2B/R2。& lt; b> & lt; i>结论:& lt; / i> & lt; / b>具有非典型表现的遗传疾病应提高第二种疾病的可能性，促使适当的调查。忽视第二个诊断可能意味着没有提供足够的遗传咨询、支持或特定的治疗。

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来源期刊

Molecular Syndromology Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

1.70

自引率

9.10%

发文量

期刊介绍： ''Molecular Syndromology'' publishes high-quality research articles, short reports and reviews on common and rare genetic syndromes, aiming to increase clinical understanding through molecular insights. Topics of particular interest are the molecular basis of genetic syndromes, genotype-phenotype correlation, natural history, strategies in disease management and novel therapeutic approaches based on molecular findings. Research on model systems is also welcome, especially when it is obviously relevant to human genetics. With high-quality reviews on current topics the journal aims to facilitate translation of research findings to a clinical setting while also stimulating further research on clinically relevant questions. The journal targets not only medical geneticists and basic biomedical researchers, but also clinicians dealing with genetic syndromes. With four Associate Editors from three continents and a broad international Editorial Board the journal welcomes submissions covering the latest research from around the world.