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Hereditary Neuromuscular Disorders in Reproductive Medicine.

Authors :
Luglio, Agnese
Maggi, Elena
Riviello, Francesco Nicola
Conforti, Alessandro
Sorrentino, Ugo
Zuccarello, Daniela
Source :
Genes. Nov2024, Vol. 15 Issue 11, p1409. 32p.
Publication Year :
2024

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. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
20734425
Volume :
15
Issue :
11
Database :
Academic Search Index
Journal :
Genes
Publication Type :
Academic Journal
Accession number :
181170130
Full Text :
https://doi.org/10.3390/genes15111409