遗传性神经肌肉疾病与生殖医学。
Hereditary Neuromuscular Disorders in Reproductive Medicine.
机构信息
Medical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy.
Clinica Eugin Modena, 41126 Modena, Italy.
出版信息
Genes (Basel). 2024 Oct 30;15(11):1409. doi: 10.3390/genes15111409.
Neuromuscular disorders (NMDs) encompass a broad range of hereditary and acquired conditions that affect motor units, significantly impacting patients' quality of life and reproductive health. This narrative review aims to explore in detail the reproductive challenges associated with major hereditary NMDs, including Charcot-Marie-Tooth disease (CMT), dystrophinopathies, Myotonic Dystrophy (DM), Facioscapulohumeral Muscular Dystrophy (FSHD), Spinal Muscular Atrophy (SMA), Limb-Girdle Muscular Dystrophy (LGMD), and Amyotrophic Lateral Sclerosis (ALS). Specifically, it discusses the stages of diagnosis and genetic testing, recurrence risk estimation, options for preimplantation genetic testing (PGT) and prenatal diagnosis (PND), the reciprocal influence between pregnancy and disease, potential obstetric complications, and risks to the newborn.
神经肌肉疾病（NMDs）涵盖了广泛的遗传性和获得性疾病，这些疾病会影响运动单位，严重影响患者的生活质量和生殖健康。本叙述性综述旨在详细探讨与主要遗传性 NMDs 相关的生殖挑战，包括遗传性运动感觉神经病（CMT）、肌营养不良症、强直性肌营养不良症（DM）、面肩肱型肌营养不良症（FSHD）、脊髓性肌萎缩症（SMA）、肢带型肌营养不良症（LGMD）和肌萎缩侧索硬化症（ALS）。具体来说，它讨论了诊断和基因检测的阶段、复发风险估计、植入前基因检测（PGT）和产前诊断（PND）的选择、妊娠和疾病之间的相互影响、潜在的产科并发症以及对新生儿的风险。
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