Citation, DOI, disclosures and article data
Citation:
St-Amant M, Weerakkody Y, Myotonic dystrophy type 2. Reference article, Radiopaedia.org (Accessed on 28 Mar 2024) https://doi.org/10.53347/rID-59313
Myotonic dystrophy type 2, also known as proximal myotonic myopathy, is a rare autosomal dominant muscular disorder.
Clinical presentation
Myotonia and muscular dysfunction are the most common features of the disease. Other findings such as cardiac conduction defect, posterior subcapsular cataracts and insulin-insensitive type 2 diabetes can also be seen. The disease is only seen in adults.
Radiographic features
MRI
The main findings are subcortical supratentorial white matter lesions especially involving the frontal lobes.
See also
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1. Dalton J, Laura R, John D. Myotonic Dystrophy Type 2. (2012) GeneReview (2013) Pubmed
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2. Romeo V, Pegoraro E, Ferrati C, Squarzanti F, Sorarù G, Palmieri A, Zucchetta P, Antunovic L, Bonifazi E, Novelli G, Trevisan CP, Ermani M, Manara R, Angelini C. Brain involvement in myotonic dystrophies: neuroimaging and neuropsychological comparative study in DM1 and DM2. (2010) Journal of neurology. 257 (8): 1246-55. doi:10.1007/s00415-010-5498-3 - Pubmed
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3. Romeo V, Pegoraro E, Ferrati C, Squarzanti F, Sorarù G, Palmieri A, Zucchetta P, Antunovic L, Bonifazi E, Novelli G, Trevisan CP, Ermani M, Manara R, Angelini C. Brain involvement in myotonic dystrophies: neuroimaging and neuropsychological comparative study in DM1 and DM2. (2010) Journal of neurology. 257 (8): 1246-55. doi:10.1007/s00415-010-5498-3 - Pubmed
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