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Course: Diagnosis and Management of Myotonic Dystrophy Type 1

CME Credits: 1.00

Released: 2024-03-11

Myotonic dystrophy is an autosomal dominant form of muscular dystrophy characterized by progressive muscle weakness and wasting. Two forms of myotonic dystrophy have been described: myotonic dystrophy type 1, which affects distal muscles; and myotonic dystrophy type 2, which affects proximal muscles. Myotonic dystrophy type 1 is caused by a noncoding CTG repeat expansion within the dystrophia myotonica protein kinase (DMPK) gene, while myotonic dystrophy type 2 is caused by a noncoding CCTG repeat expansion within the cellular nucleic acid binding protein (CNBP/ZNF9) gene. RNA transcripts containing expanded CUG or CCUG repeats accumulate in the nucleus, forming foci that sequester RNA-binding proteins such as muscleblind protein (MBNL), which result in dysregulated alternative splicing, mRNA translation impairments, and mRNA instability. Patients with both types of myotonic dystrophy can present with myotonia (impaired muscle relaxation after contraction), early-onset cataracts (before age 50), or cardiac conduction abnormalities such as atrioventricular block. While symptoms may vary among individuals, myotonic dystrophy has a high penetrance rate. This article will focus on the signs and symptoms, diagnosis, and treatment of myotonic dystrophy type 1.


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