Childhood-onset Emery-Dreifuss muscular dystrophy type 2 due to an LMNA c.98A>G (p.Glu33Gly) variant: a longitudinal case report from childhood to adulthood
Year: 2026
Type: preprint
Abstract: Background Emery-Dreifuss muscular dystrophy type 2 (EDMD2) is an autosomal dominant laminopathy caused by pathogenic Lamin A/C (LMNA) gene variants and characterized by early joint contractures, slowly progressive skeletal-muscle weakness, and potentially life-threatening cardiac disease. Detailed longitudinal descriptions extending from childhood into adulthood are uncommon, particularly for individual LMNA variants. Case presentation We describe a boy whose limb weakness began at 6–7 years of age and who was referred at age 10 years for progressive proximal weakness and bilateral elbow flexion contractures. Examination showed proximal upper- and lower-limb weakness, depressed or absent deep tendon reflexes, mild pes cavus, and approximately 20-degree bilateral elbow contractures. Serum creatine kinase was mildly elevated (approximately 430 IU/L), nerve conduction studies were normal, electromyography was myopathic, and muscle biopsy showed changes consistent with muscular dystrophy. Over the next four years, weakness and contractures progressed, and by age 14 years, he required a wheelchair for community mobility. At age 23 years, fixed elbow contractures and muscle wasting persisted. Echocardiography and exercise stress testing were unremarkable; 24-hour Holter monitoring showed frequent premature atrial contractions and rare premature ventricular contractions without sustained arrhythmia. Molecular testing identified a heterozygous pathogenic LMNA variant, c.98A > G (p.Glu33Gly), confirming EDMD2. Conclusions This case illustrates the diagnostic value of early contractures in a child with relatively modest creatine kinase elevation and a myopathic electrophysiologic pattern, and it documents the evolution of genetically confirmed LMNA-related EDMD from childhood into adulthood. The preserved cardiac structure at adult assessment does not eliminate future risk; lifelong rhythm and structural cardiac surveillance remain essential. Molecular confirmation also enables appropriate counselling and targeted evaluation of at-risk relatives.
Source: Research Square
Institution: Zayed Military Hospital
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W7225753354