This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
Difficulty finding words
Loss of words[ more ]
Mental disorientation[ more ]
Progressive dementia[ more ]
Loss of developmental milestones
Mental deterioration in childhood[ more ]
|Elevated serum creatine kinase||
Elevated blood creatine phosphokinase
Elevated circulating creatine phosphokinase
Elevated creatine kinase
Elevated serum CPK
Elevated serum creatine phosphokinase
High serum creatine kinase
Increased creatine kinase
Increased creatine phosphokinase
Increased serum CK
Increased serum creatine kinase
Increased serum creatine phosphokinase[ more ]
Paralysis on one side of body
Intermittent migraine headaches
Migraine headaches[ more ]
|Retinal arteriolar tortuosity||0001136|
Damage to nerves that sense feeling
|30%-79% of people have these symptoms|
|Cerebral cortical atrophy||
Decrease in size of the outer layer of the brain due to loss of brain cells
Disruption of blood oxygen supply to brain
|Cranial nerve paralysis||0006824|
Impaired gait[ more ]
|Impaired pain sensation||
Decreased pain sensation
Poor memory[ more ]
Involuntary muscle stiffness, contraction, or spasm
Loss of eyesight
Poor vision[ more ]
|5%-29% of people have these symptoms|
|Abnormality of extrapyramidal motor function||0002071|
Narrowing and hardening of arteries
Low blood sugar
|Sensorineural hearing impairment||0000407|
Bleeding below the skin
Loss of vision
Vision loss[ more ]
|1%-4% of people have these symptoms|
Psychiatric disturbances[ more ]
|Percent of people who have these symptoms is not available through HPO|
|Abnormality of the skin||0000951|
|Abnormality of visual evoked potentials||0000649|
Symptoms begin in adulthood
|Nonarteritic anterior ischemic optic neuropathy||0007634|
|Recurrent subcortical infarcts||0007236|
Loss of bladder control
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.
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include Binswanger disease, primary angiitis of the central nervous system and multiple sclerosis as well as other genetic disorders such as CARASIL, MELAS syndrome, Fabry disease and small-vessel diseases associated with COL4A1 mutations (e.g. familial porencephaly) (see these terms).
Visit the Orphanet disease page for more information.
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.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
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.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
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