Abstract
Emery-Dreifuss Muscular Dystrophy (EDMD) is a rare genetic disorder characterized by muscle weakness, joint contractures, and cardiac dysfunction. Within this spectrum, EDMD Type 2, attributed to a heterozygous missense variant in exon 9 of the LMNA gene, presents a distinctive clinical profile. This case report details the presentation and management of a teenage girl displaying neck, trunk, upper and lower limb weakness, Achilles tendon contracture, and lordosis. Initial assessments, including elevated creatine phosphokinase (CPK) levels and electromyography (EMG) suggestive of myopathy, prompted further investigation. Genomic analysis using targeted gene sequencing using the ExomeDepth method subsequently confirmed the rare autosomal variant of EDMD Type 2 within the OMIM (Online Mendelian Inheritance in Man) phenotype. Given the heterogeneity of EDMD, cardiac evaluation becomes paramount in understanding its multifaceted nature. In this case, the patient underwent surgical correction, specifically, Achilles tendon release, and subsequent post-surgical rehabilitation. Notably, there was a marked improvement in ambulation, underscoring the significance of early release of contractures in enhancing overall functional outcomes. This comprehensive case study not only contributes insights into the clinical, genetic, and surgical aspects of EDMD Type 2 but also highlights the pivotal role of timely interventions in optimizing patient outcomes.