Case Reports of Pregnancy and Myotonic Dystrophy

With the correct diagnosis myotonic dystrophy can be prevented for the next generation. By using pre-implant diagnosis the next generation can be assured not to have myotonic dystrophy. This is an expensive and not practical approach in all countries though.  This blog contains  case reports from Pakistan of two case studies.


Myotonic dystrophy is the most common
neuromuscular disease in adults with a prevalence of 2.4-5.5
per 100,000. Here we describe two cases of DM and discuss
their obstetric complications. Our first case concerns a 39 year
old multipara whose pregnancies were complicated by
recurrent abdominal pain, polyhydramnios and post partum
haemorrhage which was attributed to DM. In our second case
we discuss the management of a 27 year old woman with dichorionic,
di-amniotic twins. Chorionic Villous Sampling at
11 weeks revealed one of the fetuses, a male; to be afflicted by
DM. Selective termination of the affected twin was
performed. Unfortunately, she developed severe
oligohydramnios and chronic liquor leak. This resulted in the
intra-uterine death of the second twin 5 days later. Our cases
highlight the importance of prenatal diagnosis and prompt
genetic counselling. A multidisciplinary team approach is
required in the management of such high risk cases.

Myotonic Dystrophy and Pregnancy Case Reports

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