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Authors

  1. Frazer, Kristin L. MS, CGC, LGC
  2. Porter, Stephanie MS, WHNP-BC
  3. Goss, Christina MS, WHNP-BC

Abstract

Neuromuscular diseases can have a tremendous impact on pregnant women and affect offspring. Healthcare providers need to have a firm understanding of the genetics involved as well as the potential complications that can arise when treating pregnant women who have been diagnosed with a neuromuscular disease or have an increased risk for delivering an infant affected by one of these disorders. This article provides a comprehensive synopsis of genetics, including the strategies for obtaining a detailed patient and family genetic history through construction of a pedigree, as well as imparting some key knowledge for providing appropriate counseling and treatment to affected individuals and families. It addresses the genetic testing, diagnosis, impact, and medical considerations for both patients and offspring affected by myotonic dystrophy, Duchenne and Becker muscular dystrophies, limb-girdle muscular dystrophy, Charcot-Marie-Tooth disease, and spinal muscular atrophy.