Key result
A 44-year-old pregnant woman presenting with acute leg pain and elevated creatine kinase was diagnosed with myotonic dystrophy, which resolved post-delivery, while the fetus had congenital disease.
Case Report (n=1)
Highlights the importance of considering myotonic dystrophy as a differential diagnosis for acute muscle pain and weakness in pregnancy, especially with a history of cataracts and atrial fibrillation.
May alert clinicians to myotonic dystrophy in peripartum leg pain with elevated CK; leaves open prospective screening studies.
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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Heron et al. (2022) conducted a case report in Myotonic dystrophy in pregnancy (n=1). A 44-year-old pregnant woman presenting with acute leg pain and elevated creatine kinase was diagnosed with myotonic dystrophy, which resolved post-delivery, while the fetus had congenital disease.
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