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Disease Profile
Susac syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Unknown
Age of onset
All ages
ICD-10
I67.7
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Retinocochleocerebral vasculopathy; SICRET (small infarction of cochlear, retinal, and encephalic tissue) syndrome
Categories
Blood Diseases; Kidney and Urinary Diseases; Nervous System Diseases
Summary
Susac
The cause of Susac syndrome is still unknown. Diagnosis is based on a clinical exam and
Symptoms
A headache is often one of the earliest symptoms of Susac syndrome. Recurrent headaches may be a sign of
Affected people may also have specific findings in the eyes called branch retinal artery occlusions (BRAO). This occurs when one of the blood vessels that supply blood to the retina (retinal arteries) become blocked. This can cause dark spots in the vision, but some people have no symptoms of BRAO.[1]
Susac syndrome can also cause
People with Susac syndrome may find that their symptoms go away and return again over a period of years. Other people experience symptoms only once, and after treatment the symptoms go away completely. Although the condition may resolve on its own, some people can develop long-term neurological damage, vision loss, or hearing loss.[5]
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 |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Headache |
Headaches
|
0002315 |
30%-79% of people have these symptoms | ||
Abnormal |
0001273 | |
Cognitive impairment |
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ] |
0100543 |
Confusion |
Disorientation
Easily confused
Mental disorientation
[ more ] |
0001289 |
Generalized |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
Sensorineural hearing impairment | 0000407 | |
Visual loss |
Loss of vision
Vision loss
[ more ] |
0000572 |
5%-29% of people have these symptoms | ||
Abnormality of eye movement |
Abnormal eye movement
Abnormal eye movements
Eye movement abnormalities
Eye movement issue
[ more ] |
0000496 |
Apathy |
Lack of feeling, emotion, interest
|
0000741 |
Diplopia |
Double vision
|
0000651 |
Dysarthria |
Difficulty articulating speech
|
0001260 |
Gait ataxia |
Inability to coordinate movements when walking
|
0002066 |
Lethargy | 0001254 | |
Muscle weakness |
Muscular weakness
|
0001324 |
Nausea and vomiting | 0002017 | |
Personality changes |
Personality change
|
0000751 |
Psychosis | 0000709 | |
Sensory impairment | 0003474 | |
Tinnitus |
Ringing in ears
Ringing in the ears
[ more ] |
0000360 |
Upper motor neuron dysfunction | 0002493 | |
Vertigo |
Dizzy spell
|
0002321 |
Cause
Diagnosis
A complete eye exam is also done to diagnose Susac syndrome. This eye exam will include a fluorescein angiography, which measures the blood flow through the retina. Other tests include a hearing exam to test for
Susac syndrome can mimic several diseases, including multiple sclerosis, acute disseminated encephalomyelitis, chronic encephalitis, aseptic meningitis, Lyme disease, cardioembolic disorder, complicated migraine, systemic lupus erythematosus, Bechet syndrome, sarcoidosis, tuberculosis, syphilis, lymphomas, and Creutzfeldt-Jakob disease.[3][8][9]
Treatment
Alternative treatments such as mycophenolate mofetil may be helpful in cases that don’t improve with other treatment. Overall, medications for Susac syndrome can prevent more symptoms from developing and improve symptoms of the condition, but the treatment may not be able to repair neurological, hearing, or visual damage. In some cases, people with severe hearing loss may benefit from cochlear implants.[4]
Related diseases
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
|
---|
Inflammatory demyelinating CNS disease (such as multiple sclerosis, acute disseminated encephalitis, neuromyelitis optica spectrum disorders), autoimmune encephalitis, and various other diseases involving CNS, retina, and inner ear, including infections, malignancies, psychotic disorders, cerebrovascular disease, migraine, Meniere disease , isolated BRAO) and a variety of autoimmune diseases such as Cogan syndrome, Eales disease, autoimmune inner-ear disease, polyarteritis nodosa, Wegener granulomatosis, Churg-Strauss syndrome, systemic lupus erythematosus, antiphospholipid syndrome, Sjögren syndrome and Behçet disease.
Visit the Orphanet disease page for more information.
|
Organizations
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.
Organizations Supporting this Disease
-
Hearing Loss Association of America
7910 Woodmont Avenue
Suite 1200
Bethesda, MD 20814
Telephone: +1-301-657-2248
E-mail: [email protected]
Website: https://www.hearingloss.org/
Organizations Providing General Support
-
American Autoimmune Related Diseases Association (AARDA)
19176 Hall Road, Suite 130
Clinton Township, MI 48038
Toll-free: 800-598-4668
Telephone: 586-776-3900
Fax: 586-776-3903
E-mail: [email protected]
Website: https://www.aarda.org/
Learn more
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.
Where to Start
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- The The Cleveland Clinic Web site has an information page on Susac syndrome. Click on the Cleveland Clinic link to view this page.
In-Depth Information
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Susac syndrome. Click on the link to view a sample search on this topic.
References
- Rennebohm R, Egan RA, and Susac JO [now deceased]. Susac's Syndrome. National Organization for Rare Disorders (NORD). 2015; https://rarediseases.org/rare-diseases/susacs-syndrome/.
- Rennebohm RM, Lubow M, Rusin J, Martin L, Grzybowski DM, Susac JO. Pediatr Rheumatol Online J. January 2008; https://www.ped-rheum.com/content/pdf/1546-0096-6-3.pdf.
- Do TH, Fisch C, Evoy F. Susac Syndrome: Report of Four Cases and Review of the Literature. Am J Neuroradiol. March, 2004; https://www.ajnr.org/cgi/content/full/25/3/382.
- Jan-Markus Dorr. Susac syndrome. Orphanet. September, 2013; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=838.
- Aubart-Cohen, et.al.. Long-Term Outcome in Susac Syndrome. Medicine. March 2007;
- Rennebohm, Robert; Susac, John. Journal of Neurological Sciences. February 26,2007; https://www.ncbi.nlm.nih.gov/pubmed/17324441.
- Star M, Gill R, Bruzzone M, De Alba F, Schneck MJ, and Biller J. Do not forget Susac syndrome in patients with unexplained or acute confusion. Journal of Stroke and Cerebrovascular Diseases. April 2015; 24(4):e93-95. https://www.ncbi.nlm.nih.gov/pubmed/25680663.
- Susac JO. American Journal of Neuroradiology. March 2004; 25(3):351-352. https://www.ajnr.org/cgi/content/full/25/3/351.
- Sandhya V, Anand N. Susac Syndrome: A Case Report. Eye. November 2002; 16:788–790. https://www.nature.com/eye/journal/v16/n6/pdf/6700170a.pdf.
- Saux A, Niango G, Charif M, Morales R, Mura F, Bonafe A, and Mourand I. Susac’s syndrome, a rare, potentially severe or lethal neurological disease. Journal of the Neurological Sciences. October 15, 2010; 297(1-2):71-73. https://www.ncbi.nlm.nih.gov/pubmed/20723912.
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