Obstetric management of a woman with limb-girdle muscular dystrophy type 2i and dilated cardiomyopathy

Abstract

Limb-girdle muscular dystrophy describes a clinical phenotype with progressive weakness and atrophy of the muscles of the shoulders and hips. One of the more common types, limb-girdle muscular dystrophy type 2i, is associated with impaired cardiac function and restrictive lung disease, typically disproportionate to muscular disease. This condition presents a number of complex challenges in pregnancy and there are few case reports of its successful management. Here we discuss the course of the first pregnancy of a 20-year-old woman with limb-girdle muscular dystrophy type 2i.

Patterns of Clinical Progression Among Patients With Autosomal Recessive Limb-Girdle Muscular Dystrophy: A Systematic Review

“…1, see Table , Supplemental Digital Content A.2 , http://links.lww.com/JCND/A58). 12–142 Included data were primarily derived from case reports (n = 74), although patient-level data were also commonly available from retrospective (n = 22) and prospective (n = 18) studies. Of studies reporting a geographic location, over 35 countries were represented, with the most studies conducted in the United States (n = 14) and Germany (n = 13).…”

Letter to the Editor

“…I read with interest the case report by von Guionneau and Stone detailing management of a pregnant woman with limb-girdle muscular dystrophy type 2i (LGMD2i). 1 Although monitoring of respiratory function in the second half of pregnancy in these women is mentioned in this case report, it is not given the emphasis that it warrants, given the frequency at which diaphragmatic weakness and sleep apnoea occur in this disorder. 2–5 The latter is not specific to LGMD2i, indeed sleep-disordered breathing is seen not uncommonly in individuals with myotonic dystrophy, Duchenne muscular dystrophy, Becker muscle dystrophy and fascioscapulohumeral dystrophy.…”