Myotonic dystrophy type 1 is an autosomal dominant, inherited multi-organ disorder that can affect people of all ages. It is the most commonly occurring inherited muscular disease in adults. Late diagnosis points to limited knowledge among colleagues that symptoms other than typical muscular symptoms can dominate. The condition often worsens with each generation and some families are severely affected. Significantly delayed diagnosis means a risk of more serious development of the disorder and inadequate symptomatic treatment. We hope that this clinical review article may lead to more rapid diagnosis and better follow-up of this patient group.
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Ørstavik et al. (2024) studied this question.
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