Myotonic Dystrophy Type 1

Joosten, Isis B.T.; Okkersen, Kees; Engelen, B.G.M. van; Faber, Catharina G.

doi:10.1002/9781119432692.ch39

Cited by 1 publication

(1 citation statement)

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“…Infertility is more common 5 and there are higher rates of miscarriage, ectopic pregnancy, placenta praevia, urinary tract infections, labour dystocia, retained placenta, postpartum haemorrhage and low birth weight. [6][7][8] Preterm birth is seen in 30-51% of affected pregnancies 9 and Awater et al 7 described premature labour in 36.9% of DM1 patients. Johnson et al 6 reported pre-eclampsia in 9.5% of pregnancies affected by DM1.…”

Section: Discussionmentioning

confidence: 99%

Acute leg pain and weakness in pregnancy: A new diagnosis of myotonic dystrophy

et al. 2022

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We present a unique case of a 44-year-old woman who presented at 29 weeks’ gestation with proximal limb pain and elevated creatine kinase. This occurred in the background of premature cataracts, atrial fibrillation and abnormal liver function. Clinical, pathological and neurodiagnostic findings supported a diagnosis of myotonic dystrophy, confirmed by genetic testing which revealed dystrophia myotonica protein kinase gene expansion. Muscle biopsy found both recent necrotising and chronic myopathic processes. Following delivery, the mother's myalgia resolved and creatine kinase quickly declined. The fetus was diagnosed with congenital myotonic dystrophy. We review the impact of myotonic dystrophy on pregnancy and discuss potential explanations for this patient's clinical course. This case emphasises the importance of considering myotonic dystrophy as a differential diagnosis in the right clinical context and the need for pre-pregnancy assessment and genetic counselling in women with known myotonic dystrophy.

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