CADASIL Meaning and
Definition
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CADASIL, which stands for Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy, is a rare genetic disorder that affects the blood vessels in the brain. It is an inherited condition caused by mutations in the NOTCH3 gene. The disease is autosomal dominant, meaning that a child has a 50% chance of inheriting the disorder if one of their parents carries the mutated gene.
CADASIL primarily affects small blood vessels in the brain, leading to a variety of neurological symptoms. These symptoms typically begin to appear between the ages of 30 and 50, although the onset can vary widely. Common symptoms include recurrent strokes, migraines, cognitive decline, mood disturbances, and difficulty with walking and balance. As the disease progresses, individuals with CADASIL may also develop dementia and become increasingly dependent on others for everyday activities.
Diagnosis of CADASIL involves a combination of clinical evaluation, brain imaging, and genetic testing to identify mutations in the NOTCH3 gene. There is currently no cure for CADASIL, and treatment focuses on managing symptoms and preventing complications. This often involves medications to control blood pressure and prevent strokes, as well as supportive measures such as physical therapy and counseling.
CADASIL is a complex and debilitating condition that significantly impacts the daily lives of affected individuals. Ongoing research is aimed at better understanding the underlying mechanisms of the disease and developing targeted therapies to improve outcomes for those with CADASIL.
Common Misspellings for CADASIL
- cadqasil
- c adasil
- ca dasil
- cad asil
- cada sil
- cadas il
- cadasi l
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