Molecular and genetic characteristics of patients from the National Registry of Duchenne/Becker Muscular Dystrophy in the Russian Federation: Pilot analysis.

IF 3.4 4区医学 Q2 CLINICAL NEUROLOGY

Journal of neuromuscular diseases Pub Date : 2025-07-20 DOI:10.1177/22143602251356189

Peter A Sparber, Elena V Zinina, Olga Shchagina, Aleksander V Polyakov, Sergey I Kutsev

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引用次数: 0

Abstract

Background: There is currently no reliable epidemiological data in the Russian Federation nor data on patient routing and evaluation of the efficacy and feasibility of diagnostic and therapeutic approaches to patients with suspected Duchenne/Becker muscular dystrophy (DMD/BMD).

Objective: To record and monitor all patients with DMD/BMD in Russia.

Methods: Observational multicenter prospective & retrospective Registry of patients with DMD/BMD.

Results: Almost half of the 626 included patients live in the Central and Volga Federal Districts. The most common cause of the disease was large deletions of one or more exons (328 patients, 52.4%). Large duplications were identified in 92 patients (14.7%). Point mutations were identified in 206 patients, 32.9%. Among 448 patients with a known family history, 20% had a first-line relative diagnosed with DMD/BMD. The mean delay in diagnosis (the time from onset to clinically confirmed diagnosis) was 24.3 months.

Conclusions: These data demonstrate the preliminary results of the Registry and indicate a considerable delay in diagnosis in Russia.

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俄罗斯联邦杜氏/贝克尔肌营养不良症国家登记处患者的分子和遗传特征：初步分析。

背景：俄罗斯联邦目前没有可靠的流行病学数据，也没有关于疑似Duchenne/Becker肌营养不良症（DMD/BMD）患者诊断和治疗方法的患者路线和疗效和可行性评估的数据。目的：记录和监测俄罗斯所有DMD/BMD患者。方法：对DMD/BMD患者进行观察性多中心前瞻性和回顾性登记。结果：626名纳入的患者中几乎有一半生活在中央和伏尔加联邦区。该疾病最常见的原因是一个或多个外显子的大缺失（328例，52.4%）。在92例（14.7%）患者中发现大量重复。点突变206例，占32.9%。在448名已知家族史的患者中，20%的患者有一线亲属被诊断为DMD/BMD。平均诊断延迟（从发病到临床确诊）为24.3个月。结论：这些数据证明了登记的初步结果，并表明俄罗斯的诊断有相当大的延迟。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Journal of neuromuscular diseases Medicine-Neurology (clinical)

CiteScore

5.10

自引率

6.10%

发文量

102

期刊介绍： The Journal of Neuromuscular Diseases aims to facilitate progress in understanding the molecular genetics/correlates, pathogenesis, pharmacology, diagnosis and treatment of acquired and genetic neuromuscular diseases (including muscular dystrophy, myasthenia gravis, spinal muscular atrophy, neuropathies, myopathies, myotonias and myositis). The journal publishes research reports, reviews, short communications, letters-to-the-editor, and will consider research that has negative findings. The journal is dedicated to providing an open forum for original research in basic science, translational and clinical research that will improve our fundamental understanding and lead to effective treatments of neuromuscular diseases.