The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormality of temperature regulation||90%|
|Abnormality of the retinal vasculature||90%|
|Neurological speech impairment||90%|
|Cerebral cortical atrophy||50%|
|Cranial nerve paralysis||50%|
|Abnormality of extrapyramidal motor function||7.5%|
|Recurrent respiratory infections||7.5%|
|Abnormality of the skin||-|
|Abnormality of visual evoked potentials||-|
|Autosomal dominant inheritance||-|
|Nonarteritic anterior ischemic optic neuropathy||-|
|Recurrent subcortical infarcts||-|
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Suggest an organization to add.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
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Both my grandfather and my uncle died from strokes caused by CADASIL and MS. My father was tested and does not have it. What are the chances that it may have passed him and I will have it? See answer
I was diagnosed with multiple sclerosis (MS) after a spinal tap and MRI. My neurologist ordered genetic testing of NOTCH3, which was positive for CADASIL. Is it possible to have MS and CADASIL? Also, would CADASIL cause lesions on the brain? See answer
My mother and her identical twin sister have CADASIL. While some of my cousins have the condition, I do not. Am I at risk to inherit this condition? See answer