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Updated: May 10, 2026

Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells
Published on: July 29, 2016
Myotonic dystrophy type 1 presenting with stroke-like episodes: a case report
Jens D Rollnik1, Ute Heinz, Olaf Lenz
1BDH-Clinic Hessisch Oldendorf, Teaching Hospital of Medical School Hannover, Institute of Neurorehabilitational Research-InFo, Greitstr 18-28, Hessisch Oldendorf 31840, Germany. prof.rollnik@bdh-klinik-hessisch-oldendorf.de
Background:
It is well known that myotonic dystrophy type 1 (DM1)--Curschmann-Steinert disease--is associated with white matter lesions in the brain. Further, DM1 patients may suffer from cardiac involvement and cardioembolic strokes. We report on the unique case of an adult-onset DM1 without cardiac or vascular abnormalities presenting with stroke-like episodes.
Case Presentation:
A 40 y old white female was admitted twice to our stroke unit with apoplectic dizziness, nausea, headaches, and numbness in the right arm. She was suffering from type 2 diabetes, cataract, and endometriosis. Magnetic resonance imaging (MRI) revealed confluent white matter lesions in all cerebral lobes. There was no hyperintensity on diffusion-weighted imaging (DWI) and no gadolinium enhancement. Cerebrospinal fluid was normal. Surprisingly, myotonic discharges were detected in electromyography (EMG). Genetic testing revealed 200 ± 10 CTG repeats in the dystrophia myotonica protein kinase (DMPK) gene on chromosome 19 and DM1 was diagnosed.
Conclusions:
DM1 may be the cause of cerebral white matter lesions. This is the first case of DM1 presenting with stroke-like episodes.
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