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|
|Abnormality of the substantia nigra||0045007|
|Progressive cerebellar ataxia||0002073|
|30%-79% of people have these symptoms|
|Abnormality of the spinocerebellar tracts||0003133|
|Cerebellar Purkinje layer atrophy||0012082|
Progressive dementia[ more ]
Difficulty articulating speech
Decreased muscle tone
Low muscle tone[ more ]
Involuntary, rapid, rhythmic eye movements
|Slow saccadic eye movements||
Slow eye movements
|Spinal cord posterior columns
|5%-29% of people have these symptoms|
|Abnormal cortical gyration||0002536|
|Cerebral cortical atrophy||
Decrease in size of the outer layer of the brain due to loss of brain cells
|Cerebral white matter atrophy||0012762|
|Hyperactive deep tendon reflexes||0006801|
|Percent of people who have these symptoms is not available through HPO|
Slowness of movements[ more ]
|Dilated fourth ventricle||0002198|
Distal muscle wasting
Lack of coordination of movement
Uncoordinated eye movement
Swallowing difficulty[ more ]
|Impaired horizontal smooth pursuit||0001151|
|Impaired vibratory sensation||
Decreased vibration sense
Decreased vibratory sense
Diminished vibratory sense
Impaired vibratory sense[ more ]
Low or weak muscle tone
Eye muscle paralysis
Involuntary muscle stiffness, contraction, or spasm
|Spinocerebellar tract degeneration||0002503|
|Urinary bladder sphincter dysfunction||0002839|
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.
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.
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.
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
My father has been diagnosed with this condition. His condition has gotten progressively worse over the past 7-8 years. I am a 50 year old female and have shown no signs of this condition. I have two sons and am concerned about the possibility that they may have this condition in their genetic makeup. If this skips my generation, is it possible that they could have this later in life? See answer
What type of diet is recommended for people with spinocerebellar ataxia type 2? See answer
Is there a cure for spinocerebellar ataxia type 2? How can I learn more about clinical trials involving new treatments for spinocerebellar ataxia type 2? See answer