Cerebral Cavernous Malformation (CCM): Unraveling the Genetic Basis, Challenges in Diagnosis and Treatment, and Ongoing Research Efforts

Abstract

The weakened blood vessels associated with cerebral cavernous malformation (CCM) can result in symptoms such as seizures, stroke-like symptoms, headaches, sensory disturbances, and life-threatening hemorrhages. Symptoms significantly impact daily life and may be challenging to diagnose due to their nonspecific nature. Diagnosing CCM can be challenging due to the lack of specific symptoms, and treatment decisions are complex, considering factors such as the location, size, and associated symptoms of the malformations, as well as the overall health of the individual. Treatment options range from conservative management to surgical interventions, each with its own benefits and risks. Ongoing research efforts focus on unraveling the genetic basis, underlying mechanisms, and potential targeted therapies for CCM. Advances in genetic testing and imaging techniques play a crucial role in improving diagnosis and treatment strategies. This article provides a comprehensive overview of CCM's epidemiology, genetic Basis, challenges in diagnosis and treatment, and ongoing research aimed at better understanding and managing this condition.