Steinert disease

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Myotonic dystrophy type 1, also known as Steinert disease, is a rare autosomal dominant multisystem disorder.

Clinical presentation

In adults, it is mainly characterized by muscle weakness, myotonia, cardiac conduction defect and posterior subcapsular cataracts . In neonates, it is characterized by hypotonia and respiratory distress often leading to death .

The disease has a variable onset as it can be seen in adults (adult-onset) and children (congenital form). The diagnosis is established with genetic testing.

Radiographic features

MRI

MRI features are nonspecific and include bilateral supratentorial white matter lesions and mild cortical atrophy . Subcortical white matter lesions most commonly involve the frontal lobes but can also be seen in the temporo-insular region. The latter feature is not seen with myotonic dystrophy type 2 .

See also