Much More Than a Stroke: Emery-Dreifuss Muscular Dystrophy Type 2 Revealed by Ischemic Stroke

Emery-Dreifuss muscular dystrophy type 2 (EDMD2) is a rare autosomal dominant neuromuscular disorder caused by LMNA gene mutations and characterized by progressive skeletal muscle weakness and significant cardiac involvement. We report the case of a 45-year-old woman who presented with sudden-onset, left-sided hemiparesis and dysarthria. Initial imaging was unremarkable, and symptoms transiently improved, suggesting a transient ischemic attack. However recurrent deficits led to the identification of right middle cerebral artery occlusion and new-onset atrial fibrillation. Mechanical thrombectomy was successfully performed. Subsequent cardiac evaluation revealed dilated cardiomyopathy with moderately depressed systolic function and segmental wall motion abnormalities, although coronary arteries were normal. Cardiac magnetic resonance imaging demonstrated myocardial fibrosis with late gadolinium enhancement in the subendocardial and mid-wall regions, suggestive of genetic cardiomyopathy. A neurological examination noted lordotic posture, waddling gait, positive Gowers' sign, generalized proximal muscle atrophy, and flaccid hyporeflexic tetraparesis. Electromyography confirmed a proximal myopathy. The patient reported limb weakness since her twenties. Family history was significant for similar neuromuscular and cardiac symptoms. Genetic testing identified a heterozygous LMNA missense variant (ClinVar ID: 804298), confirming the diagnosis of EDMD2. Despite the implantation of a cardiac resynchronization therapy defibrillator and optimal medical management, she experienced recurrent ventricular tachyarrhythmias, necessitating listing for heart transplantation. This case highlights the diagnostic challenges of EDMD2, particularly when the initial presentation is ischemic stroke, a rare manifestation of this genetic myopathy. It underscores the importance of a multidisciplinary approach for early diagnosis and management to improve the outcomes of this rare but impactful disorder.