Abstract
Myotonic dystrophy type 1 (DM1) is the most common of the muscular dystrophies. It is an autosomal dominant neuromuscular disorder with multisystem involvement, including the central nervous system. Two DNA-proven cases are presented. Patients reported are siblings showing features of DM1 on magnetic resonance imaging (MRI). These features include T2 and FLAIR hyperintensities in the periventricular, deep, and subcortical white matter, with frequent involvement of the anterior temporal lobe. Other features include general brain atrophy and enlarged Virchow-Robin spaces. Subcortical white matter lesions anterior in the temporal lobe are the most specific imaging finding, and a short differential diagnosis is discussed.
Highlights
With a prevalence of 1 in 8,000, myotonic dystrophy (DM) is the most common form of adult-onset muscular dystrophy
Genetic testing was performed in both patients, which showed an expansion of 800 CTG-repeats in patient A and an expansion of 600 CTG-repeats in patient B, confirming the diagnosis of myotonic dystrophy in both
Myotonia is best appreciated in the fingers but becomes less apparent when muscle weakness progresses over time
Summary
Jurgen Bielen*, Steven Schepers†, Bruno Termote†, Rik Vanwyck† and Geert Souverijns†. Myotonic dystrophy type 1 (DM1) is the most common of the muscular dystrophies. It is an autosomal dominant neuromuscular disorder with multisystem involvement, including the central nervous system. Patients reported are siblings showing features of DM1 on magnetic resonance imaging (MRI). These features include T2 and FLAIR hyperintensities in the periventricular, deep, and subcortical white matter, with frequent involvement of the anterior temporal lobe. Other features include general brain atrophy and enlarged Virchow-Robin spaces. Subcortical white matter lesions anterior in the temporal lobe are the most specific imaging finding, and a short differential diagnosis is discussed
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