Pregnancy in a patient with nemaline myopathy

BACKGROUND: Nemaline myopathy is a rare, slowly progressive neuromuscular disorder, characterized by generalized skeletal and smooth muscle weakness and hypotonia. It is extremely rare in pregnancy. However, it may adversely affect pregnancy, and pregnancy may exacerbate the natural progress of the condition. CASE: We report a woman with nemaline myopathy diagnosed during pregnancy who presented primarily with respiratory symptoms. This report reviews the clinical spectrum of nemaline myopathy and its management, which resulted in the delivery of a healthy infant. CONCLUSION: It is important that the clinician has a clear understanding of the clinical spectrum of nemaline myopathy, the available methods for perinatal diagnosis, and optimal antenatal care. A multidisciplinary team approach is emphasized, with specific reference to the method of analgesia and anesthesia during labor and route of delivery.