Researchers analyzed five cases of myasthenia gravis (MG) to highlight the clinical and genetic challenges when diagnosing the condition and the impact of delayed diagnosis. MG is a rare disorder affecting the neuromuscular junction of skeletal muscles and is less frequently observed in children. It has various causes, such as autoimmune MG, congenital myasthenic syndromes, and transient neonatal myasthenia gravis. The symptoms, which include muscle weakness, low muscle tone (hypotonia), and quick fatigue, are often attributed to more common conditions, leading to delayed diagnosis and treatment in children with MG. This delay, researchers noted, can result in disease progression and severe complications like myasthenic crises and exacerbations.
Reference: Bricoune O, Hamner B, Gieron-Korthals M. Challenges in Diagnosing and Treating Myasthenia Gravis in Infants and Children with Presentation of Cases. Adv Pediatr. 2023 Aug;70(1):81-90. doi: 10.1016/j.yapd.2023.03.007. Epub 2023 May 10. PMID: 37422299.
