J Electrodiagn Neuromuscul Dis.  2022 Dec;24(3):100-103. 10.18214/jend.2022.00066.

Ischemic Stroke with Antiphospholipid Syndrome in a Myotonic Dystrophy Type 1 Patient: A Rare Case Report

• Lee EJ
• Shin DJ
• Ko YJ
• Jun SY

• KMID: 2540297
• DOI: http://doi.org/10.18214/jend.2022.00066

Abstract

Myotonic dystrophy type 1 (DM1) is a rare autosomal dominant disorder with various phenotypes involving multiple systems. Stroke co-occurrence in DM1 is rare, but can cause severe dysfunction in a patient’s quality of life. However, the mechanism of stroke in patients with DM1 is poorly understood. In this case report, we present a patient who was diagnosed with DM1 while suffering from a brain embolic infarction due to antiphospholipid syndrome (APS). This is the first known case of DM1 with APS. The coexistence of these two multisystem diseases may make the diagnosis difficult, and there is the possibility of symptoms involving multiple organs. We should pay attention to the possibility of the coexistence of autoimmune disease and stroke in DM1 patients based on this rare case of a DM1 patient with stroke and an autoimmune disease.

Keyword

Dystrophia myotonica 1; Brain infarction; Antiphospholipid syndrome