Myotonic dystrophy type 2

Last revised by Yuranga Weerakkody on 22 Mar 2019

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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