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Myotonic Muscular Dystrophies.

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eMediNexus    13 December 2019

A new article published in Continuum: Lifelong Learning in Neurology aimed to describe clinical features, pathogenesis, prevalence, diagnosis and management of myotonic dystrophy type 1 and type 2. The authors reported that the prevalence of myotonic dystrophy type 1 is better understood than the prevalence of myotonic dystrophy type 2 while new evidence indicates that the risk of cancer is increased in patients with the myotonic dystrophies. Additionally, descriptions of clinical symptoms and relative risks of comorbidities such as cardiac arrhythmias associated with myotonic dystrophy type 1 have improved. Recent findings were summarized as follows—both myotonic dystrophy type 1 and type 2 are characterized by progressive muscle weakness, early-onset cataracts and myotonia. Moreover, both disorders have multisystem manifestations that require a comprehensive management plan. Although no disease-modifying therapies have yet been identified, advances in therapeutic development have a promising future.

Source: Johnson N. Myotonic Muscular Dystrophies. CONTINUUM: Lifelong Learning in Neurology. 2019;25(6):1682-1695. doi:10.1212/con.0000000000000793

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