Multidisciplinary Mx of myotonia congenita during pregnancy
Myotonia congenita (MC) is a rare genetic disorder which affects skeletal muscles leading to delayed relaxation after voluntary contraction. This case is unique as it represents the challenges that obstetricians encounter in managing pregnant women with rare neurological disorders.

A 33-year-old patient who was diagnosed with MC at age of 12 when she presented with dysarthria. At the age of 15, her disease progressed further and at that point, she developed symptoms of myotonia. The patient described that her symptoms ameliorated in hot weather or after exercise. There was no family history.

She had two previous pregnancies both of which were delivered by elective caesarean section at 39 weeks. This was advised by her obstetrician due to her risk of mechanical obstruction in labor.

She was reviewed initially in the antenatal clinic at 15 weeks gestation of her third pregnancy. Neurological examination at that time was normal apart from hypertrophied proximal muscles of the upper limbs and some difficulty getting up from a sitting position. The patient was educated regarding the 50% risk of that the foetus could be affected with MC. She declined invasive testing as the results would not affect her decision to continue with her pregnancy.

The patient expressed her wishes to have a vaginal birth and the associated risks of vaginal delivery after having two previous caesarean sections were discussed. A consultant neurologist was involved in the discussion regarding the possibility of a vaginal delivery. Their advice was that due to limited information and no current guidance regarding preferred mode of delivery in pregnant women with MC, there are no absolute contraindications to vaginal delivery.

An anesthetist reviewed the patient and suggested that she should not be a candidate for general anesthesia. After having an extensive discussion about possible complications from both her neurological condition and previous sections, it was decided by the patient that she would proceed with elective caesarean section at term.

She had an uneventful pregnancy with no worsening of her symptoms and no abnormalities detected on routine scanning. She was admitted electively at 39 weeks gestation for caesarean section under epidural anesthesia. She had an uncomplicated operation with minimum blood loss (300 mL). She gave birth to baby girl who cried immediately.

Read more here: http://www.jcgo.org/index.php/jcgo/article/view/240/112
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