Pregnancy in GNE myopathy patients: a nationwide repository survey in Japan

摘要: GNE myopathy is an autosomal recessive adult-onset distal myopathy. While a few case reports have described the progression of during pregnancy, to our knowledge, none examined disease after delivery or obstetric complications. This study aimed reveal maternal complications, newborn and impact pregnancy on in patients. We conducted questionnaire survey delivery, newborns involving female patients who are currently registered national registry Japan. The response rate for was 60.0% (72/120). Of 72 respondents, 44 (61.1%) had experience (average, 1.8 pregnancies; 53 pregnancies before onset 28 onset). incidence threatened abortion 26.9% among post-onset pregnancies, which higher compared those general Japanese population (p = 0.03). No other infant complications were commonly observed. Over 80% unaware changes (mean age, 32.8 ± 3.5 years) (32.9 ± 3.8 years), while 19.0% experienced exacerbation within year (30.0 ± 1.0 years). Six developed (29.7 ± 4.6 years), pregnancy. There no serious subjective did not differ majority However, findings suggest importance considering possibility delivery.