Cadasil (Cerebral Autosomal Dominant Arteriopathy With Sub-Cortical Infarcts And Leukoencephalopathy) is a rare genetic disorder characterized by the progressive damage of small blood vessels in the brain. It is estimated to affect approximately 1 in 50,000 individuals worldwide. Symptoms typically manifest in mid-adulthood and include migraines, cognitive decline, mood disturbances, and stroke-like episodes. Genetic testing is necessary for a definitive diagnosis. While Cadasil is relatively uncommon, its impact on affected individuals can be significant, highlighting the importance of early detection and appropriate management.
Cadasil (Cerebral Autosomal Dominant Arteriopathy With Sub-Cortical Infarcts And Leukoencephalopathy) is a rare genetic disorder that affects the small blood vessels in the brain. It is estimated to have a prevalence of approximately 1 in 25,000 individuals worldwide.
Cadasil is inherited in an autosomal dominant manner, meaning that if one parent carries the mutated gene, there is a 50% chance of passing it on to each child. The condition primarily affects adults, typically manifesting between the ages of 30 and 50.
Common symptoms of Cadasil include recurrent strokes, migraines, cognitive decline, and mood disturbances. These symptoms can vary in severity and progression, leading to significant disability in some individuals.
Diagnosis of Cadasil is confirmed through genetic testing, specifically identifying mutations in the NOTCH3 gene. Unfortunately, there is currently no cure for Cadasil, and treatment focuses on managing symptoms and preventing complications.
Due to its rarity and underdiagnosis, the prevalence of Cadasil may be underestimated. Increased awareness and genetic testing can help improve accurate diagnosis and understanding of this complex condition.