Citation, DOI, disclosures and article data
Citation:
Weerakkody Y, Campos A, Bell D, et al. Myotonic dystrophy. Reference article, Radiopaedia.org (Accessed on 23 Mar 2025) https://doi.org/10.53347/rID-67155
Myotonic dystrophy refers to a group of progressive multi-system genetic disorders that affect primarily muscle function, but can also affect other organs such as the heart, eye and endocrine system.
There are two clinically and molecularly defined forms of myotonic dystrophy:
Epidemiology
The estimated incidence is ~1:8,000 individuals.
See also
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1. Turner C, Hilton-Jones D. The myotonic dystrophies: diagnosis and management. (2010) Journal of neurology, neurosurgery, and psychiatry. 81 (4): 358-67. doi:10.1136/jnnp.2008.158261 - Pubmed
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2. Ranum LP, Day JW. Myotonic dystrophy: clinical and molecular parallels between myotonic dystrophy type 1 and type 2. (2002) Current neurology and neuroscience reports. 2 (5): 465-70. Pubmed
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3. Ranum LP, Day JW. Myotonic dystrophy: RNA pathogenesis comes into focus. (2004) American journal of human genetics. 74 (5): 793-804. doi:10.1086/383590 - Pubmed
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