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Title: Acute leg pain and weakness in pregnancy: A new diagnosis of myotonic dystrophy.
Austin Authors: Heron, Vanessa C ;Thomas, Ashmitha;Liu, Bonnia ;Crosthwaite, Amy A;Skrzypek, Hannah;McLean, Catriona A;Paizis, Kathy 
Affiliation: General Medicine
Mercy Hospital for Women, Heidelberg, Victoria, Australia.
Mercy Perinatal, Mercy Hospital for Women, Heidelberg, Victoria, Australia.
Department of Anatomical Pathology, Alfred Health, Melbourne, Victoria, Australia.;Central Clinical School, Monash University, Melbourne, Victoria, Australia.;The Florey Institute of Neuroscience and Mental Health, Parkville, Victoria, Australia.
Joan Kirner Women's and Children's Hospital, St Albans, Victoria, Australia.
Issue Date: Dec-2023
Date: 2022
Publication information: Obstetric Medicine 2023-12; 16(4)
Abstract: 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.
DOI: 10.1177/1753495X221109738
ORCID: 0000-0002-7659-6264
Journal: Obstetric Medicine
Start page: 253
End page: 255
PubMed URL: 38074202
Type: Journal Article
Subjects: Myotonic dystrophy
creatine kinase
myotonic dystrophy type one
necrotising myositis
Appears in Collections:Journal articles

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