We found scarce information available concerning the occurrence of pregnancy in women with hereditary neuromuscular disorders. Many questions are asked by the patients, their families and also by their attending neurologist and obstetrician when planning pregnancy and delivery [1]. Specifically in relation to Bethlem myopathy (BM), information is rare or even absent. Our objective is to report the case of a pregnant woman with BM surveilled at our Department. BM is a rare inherited disorder characterized by slowly progressive muscular dystrophy. It was first described in 1976 by Bethlem and van Wijngaarden and is the result of mutations in the three genes of collagen VI [2–4]. This disorder is characterized by proximal weakness and distal joint contractures [3, 4]. Patients with BM usually become symptomatic during the first or second decade of life, although hypotonia in infancy can be seen [3]. Clinical onset can also be prenatal, when it manifests with reduced fetal movements [5]. Cardiac and pulmonary involvement might be part of the clinical spectrum of BM [5]. For genetic counseling, studies in the extended family are imperative. The determination of possible recessively acting mutations in a patient with BM drastically reduces the risk of disease in the offspring [3]. We describe the case of a 38-year-old pregnant woman with BM diagnosed during adolescence, after neurological evaluation, muscular biopsy, electromyography and molecular tests, and inherited as autosomal recessive. There was no relevant familial history. This was her first pregnancy, obtained after in vitro fertilization. Our patient became symptomatic in childhood, presenting difficulty in jumping and in pulling herself up when climbing stairs. She refers a significant worsening of symptoms after 20 years of age. At the first obstetric visit, it was found that she had a typical waddling gait and was unable to rise from a chair or climb a step without using her arms; limbs and trunk muscles were rather thin and she had generalized proximal weakness and contractures of both biceps muscles and Achilles tendons. Pregnancy progressed uneventfully until the second trimester, when gestational diabetes, bicuspid aortic valve, and mild pulmonary hypertension were diagnosed. A progression of the locomotor disability also occurred, with worsening of proximal weakness of the lower limbs, and at 35 weeks of gestation a wheelchair was needed. Pulmonary function remained normal and she never reported decreased fetal movements. After a multidisciplinary discussion, it was considered that a vaginal delivery could be attempted, despite the lack of experience with similar situations. Labor started spontaneously at 38 weeks of gestation. A vacuum extraction was performed because of the patient’s difficulty in performing expulsive efforts. No maternal or neonatal complications were registered. The newborn was a male, 2,985 g and Apgar score 10/10. The patient returned to autonomous walk 2 weeks after delivery. Cardiac function remained stable. In conclusion, despite the progression of symptoms during pregnancy, after delivery the patient recovered to her pre-pregnancy functional state. Thus, with appropriate multidisciplinary care, pregnancy in women with BM may progress without significant worsening of the disease. C. Nunes (&) J. Barros M. Centeno L. Pinto L. M. Graca Departamento de Obstetricia, Ginecologia e Medicina da Reproducao, Hospital Santa Maria, CHLN, Lisbon, Portugal e-mail: carlasfnunes@hotmail.com