A @entity1 with severe generalized @entity2421 and @entity1576 , with an unknown positive family history for @entity3918 , is referred. We want to point out the importance of correct anamnesis and of physical examination during pregnancy to suspect and diagnose rare and incurable fetal pathologies. CASE REPORT: The @entity1 was born after caesarean section. @entity2978 and @entity717 were noticed during pregnancy. At birth, the baby presented @entity1763 (Apgar 4/6) and @entity1576 : he was then intubed. He received assisted ventilation for 37 days. At the physical examination, the @entity1 appeared @entity2421 , hyporeflexic, without sucking reflex, with @entity8482 and @entity10089 . On first day, chest X-ray showed @entity912 of the right hemidiaphragm. His mother presented with @entity2421 of the facial muscles, lid drop, light @entity425 , positivity to @entity1339 test: we then assumed that the baby was affected by @entity27939 and @entity1339 was carried on. Anyway, the general conditions of the baby didn't improve. We were able to establish diagnosis of @entity3918 (a form of @entity3986 with autosomal dominant inheritance with incomplete penetrance) after some other examinations (negativity of @entity934 receptor antibodies, elevation of @entity908 kinase level, myopathic pattern on electromyography). Gene @entity6045 alteration was documented with a molecular genetic test.

[Steinert's XXXX : severe neonatal form with unknown family history].

@entity1 :: ('9606', 'Species') :: ['child'] @entity717 :: ('MESH:D009069', 'Disease') :: ['decreased fetal movements'] @entity27939 :: ('MESH:D020941', 'Disease') :: ['transient neonatal myasthenia gravis'] @entity2978 :: ('MESH:D006831', 'Disease') :: ['Polyhydramnios'] @entity6045 :: ('1760', 'Gene') :: ['DMPK'] @entity8482 :: ('MESH:D001176', 'Disease') :: ['arthrogryposis'] @entity3986 :: ('MESH:D009136', 'Disease') :: ['muscular dystrophy'] @entity908 :: ('MESH:D003401', 'Chemical') :: ['creatine'] @entity425 :: ('MESH:D018908', 'Disease') :: ['muscular weakness'] @entity2421 :: ('MESH:D009123', 'Disease') :: ['hypotonia', 'hypotonic'] @entity1763 :: ('MESH:D001237', 'Disease') :: ['asphyxia'] @entity1576 :: ('MESH:D012131', 'Disease') :: ['respiratory insufficiency'] @entity10089 :: ('MESH:C536012', 'Disease') :: ['ligament laxity'] @entity3918 :: ('MESH:D009223', 'Disease') :: ["Steinert's disease"] @entity1339 :: ('MESH:D009388', 'Chemical') :: ['neostigmine'] @entity912 :: ('MESH:D010243', 'Disease') :: ['paralysis'] @entity934 :: ('MESH:D000109', 'Chemical') :: ['acetylcholine']
@entity3918 :: (MESH:D009223,Disease) :: ['myotonic dystrophy']
