What does CADASIL mean in PHYSIOLOGY
CADASIL is an abbreviation that stands for Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy. It is a rare, inherited condition that affects the small arteries in the brain.
CADASIL meaning in Physiology in Medical
CADASIL mostly used in an acronym Physiology in Category Medical that means Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
Shorthand: CADASIL,
Full Form: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
For more information of "Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy", see the section below.
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Causes
CADASIL is caused by mutations in the NOTCH3 gene. This gene provides instructions for making a protein that is involved in the development and function of blood vessels in the brain. Mutations in the NOTCH3 gene lead to the production of an abnormal protein that can damage the blood vessels and cause them to narrow or become blocked.
Symptoms
Symptoms of CADASIL typically begin in mid-life and can include:
- Frequent migraines with aura
- Strokes or transient ischemic attacks (TIAs)
- Progressive cognitive decline
- Memory problems
- Difficulty with language
- Behavioral changes
- Psychiatric symptoms
- Movement disorders
Diagnosis
CADASIL is diagnosed based on a combination of clinical symptoms, family history, and genetic testing. Genetic testing can identify mutations in the NOTCH3 gene that confirm the diagnosis.
Treatment
There is no cure for CADASIL, but treatment can help to manage the symptoms and prevent complications. Treatment may include:
- Medications to prevent strokes and TIAs
- Anti-migraine medications
- Cognitive rehabilitation therapy
- Speech therapy
- Physical therapy
Essential Questions and Answers on Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in "MEDICAL»PHYSIOLOGY"
What is CADASIL?
CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a genetic disorder affecting blood vessels in the brain. It leads to stroke-like symptoms and progressive cognitive decline.
What causes CADASIL?
CADASIL is caused by mutations in the NOTCH3 gene, which provides instructions for making a protein involved in the development and maintenance of blood vessels. Mutations in this gene disrupt blood vessel function, leading to damage and narrowing.
What are the symptoms of CADASIL?
Symptoms typically begin between the ages of 30 and 50 and include:
- Recurrent strokes, often without the classic risk factors
- Migraines with aura (visual disturbances)
- Cognitive impairment, such as memory problems and difficulty concentrating
- Mood changes and depression
- Difficulty walking or maintaining balance
- Speech problems
How is CADASIL diagnosed?
CADASIL is diagnosed through a combination of:
- Medical history and physical examination
- Blood tests to identify mutations in the NOTCH3 gene
- Brain imaging (MRI) to show the characteristic white matter lesions
Is there a cure for CADASIL?
Currently, there is no cure for CADASIL. Treatment focuses on managing symptoms and preventing further strokes.
What is the prognosis for CADASIL?
The prognosis for CADASIL varies, but it generally progresses over time. Stroke risk increases with age, and cognitive impairment and other symptoms can worsen.
Final Words: CADASIL is a rare but serious condition that can have a significant impact on the quality of life. Early diagnosis and treatment can help to manage the symptoms and prevent complications.
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