title: Stable motor and lung function throughout pregnancy in a patient with infantile spinal muscular atrophy type II.
abstract: Patients with infantile spinal muscular atrophy rarely decide to have their own children especially if there is major respiratory impairment. We studied prospectively the pregnancy course and outcome of a 34-year-old woman with spinal muscular atrophy type II who delivered a healthy boy. Pregnancy was entirely uneventful, except that for 1-2 weeks after the caesarean section, the patient was extremely weak with dyspnoea and bulbar involvement. Several weeks after delivery her motor function had returned to pre-pregnancy levels. Pulmonary function remained stable throughout pregnancy, and thereafter, at approximately 70% predicted levels for forced vital capacity and for forced expiratory volume in 1 s. Blood gases after midgestation revealed low normal PaO(2) values around 85 mmHg and concomitant hyperventilation resulting in PaCO(2) levels below 30 mmHg.
authors.affiliation: Institute for Human Genetics, Technical University of Aachen, Aachen, Germany. srudnick-schoeneborn@post.klinikum.rwth-aachen.de
authors.forename: Sabine
authors.initials: S
authors.lastname: Rudnik-Schöneborn
authors.forename: Christian
authors.initials: C
authors.lastname: Breuer
authors.forename: Klaus
authors.initials: K
authors.lastname: Zerres
mesh_terms: D000328:Adult; D002245:Carbon Dioxide / Q000097:blood; D036861:Delivery, Obstetric; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009043:Motor Activity / Q000502:physiology*; D010100:Oxygen / Q000097:blood; D010313:Partial Pressure; D011247:Pregnancy; D011248:Pregnancy Complications / Q000503:physiopathology*; D011256:Pregnancy Outcome; D011644:Puerperal Disorders / Q000503:physiopathology; D012129:Respiratory Function Tests; D014897:Spinal Muscular Atrophies of Childhood / Q000097:blood / Q000503:physiopathology*; D013147:Spirometry
chemical_list: D002245:Carbon Dioxide; D010100:Oxygen