Abstract
<i>Introduction</i>: Congenital nemaline myopathy is a genetically heterogeneous disease caused by gene defects in a number of genes: nebulin (2q21-22) alpha-tropomysin (1q21-23), alpha-actin (1q42) and others. Nemaline myopathy can be inherited as an autosomal recessive or dominant trait. <i>Case report</i>: We present a case of the first pregnancy in a woman with a congenital type of nemaline myopathy, with a severe pulmonary involvement, in the Czech Republic. <i>Course of pregnancy</i>: The woman got spontaneously pregnant less than two months after a respiratory failure, when she had to be tracheostomized, remained dependent on portable ventilator support. The patient strictly refused artificial abortion recommended to her. Until the 22<sup>nd</sup> gestational week she was stabilized in terms of ventilation and received health care at home. Subsequently, she was repeatedly admitted to the hospital for lung infection to ICU of the Department of Intensive Care. The fetus was developing proportionately, without signs of muscle hypotonia, but after the 23<sup>rd</sup> g.w. was diagnosed with slightly progressive polyhydramnios. <i>Childbirth</i>: It was decided to schedule termination of the pregnancy by a caesarean section for the 30<sup>th</sup> g.w., during the interval of the patient´s relatively satisfactory clinical respiratory and mental stabilization. A boy was born (1120g) and was transferred to the NICU. The newborn required artificial pulmonary ventilation, from the 3<sup>rd</sup> day he was extubated, with intermittent use of nasal CPAP until the 9<sup>th</sup> day. <i>Results</i>: The baby prospered, tolerated food and showed no signs of muscle hypotonia. A postoperative course of the mother went without any complications. On the 8<sup>th</sup> postoperative day she was discharged from the hospital, ventilator-dependent and with tracheostomy in place. <i>Conclusion</i>: Pregnancy in women with a congenital type of nemaline myopathy with a severe lung involvement is a challenge for physicians. Based on the course of pregnancy it is necessary to decide when its termination will be safe for both the mother and the fetus. The care of the patient requires a multidisciplinary approach.
Highlights
Congenital nemaline myopathy is a genetically heterogeneous disease caused by gene defects in a number of genes: nebulin (2q21-22) alpha-tropomysin (1q21-23), alphaactin (1q42) and others [10]
In women with a concomitant involvement of lungs, pregnancy is life-threatening and a viable pregnancy outcome is highly uncertain. This condition is indicated for artificial abortion during the first trimester of pregnancy [1]
The course of pregnancy was complicated by the underlying disease in the form of recurrent lung infection, chronic respiratory insufficiency, as well as by the patients mental condition
Summary
Congenital nemaline myopathy is a genetically heterogeneous disease caused by gene defects in a number of genes: nebulin (2q21-22) alpha-tropomysin (1q21-23), alphaactin (1q42) and others [10]. Binder Tomáš et al.: Pregnancy in a Woman with a Congenital Type of Nemaline Myopathy weakness (myopathy) throughout the body, but it is typically most severe in the muscles of the face; neck; trunk; and other muscles close to the center of the body (proximal muscles), such as those of the upper arms and legs. The most common type of nemaline myopathy is the typical congenital type, which is characterized by muscle weakness and feeding problems beginning in infancy. Most of these individuals do not have severe breathing problems and can walk unassisted. The course is often complicated with polyhydramnios. 30-50% of pregnancies end in preterm birth. [2,3,4,5,6, 9]
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