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Review
. 2024 Oct 30;15(11):1409.
doi: 10.3390/genes15111409.

Hereditary Neuromuscular Disorders in Reproductive Medicine

Agnese Luglio  1 , Elena Maggi  2 , Francesco Nicola Riviello  3 , Alessandro Conforti  4 , Ugo Sorrentino  5 , Daniela Zuccarello  6
Affiliations
Review

Hereditary Neuromuscular Disorders in Reproductive Medicine

Agnese Luglio et al. Genes (Basel). .

Abstract

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.

Keywords: ALS; CMT; SMA; dystrophy; fertility; neuromuscular disorders; pregnancy; preimplantation genetic testing; prenatal diagnosis; reproductive medicine.

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Conflict of interest statement

The authors have no conflicts of interest to declare.

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