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) |
| Aggressive behavior | - |
| Apraxia | - |
| Autosomal dominant inheritance | - |
| Bradykinesia | - |
| Broad-based gait | - |
| Cerebellar atrophy | - |
| Chorea | - |
| Confusion | - |
| Depression | - |
| Diffuse cerebral atrophy | - |
| Dysarthria | - |
| Dysmetria | - |
| Dysphagia | - |
| Dystonia | - |
| Frontal lobe dementia | - |
| Frontal release signs | - |
| Gait ataxia | - |
| Gaze-evoked nystagmus | - |
| Gliosis | - |
| Hallucinations | - |
| Impaired pursuit initiation and maintenance | - |
| Intention tremor | - |
| Lack of insight | - |
| Limb ataxia | - |
| Mutism | - |
| Myoclonus | - |
| Neuronal loss in central nervous system | - |
| Paranoia | - |
| Parkinsonism | - |
| Positive Romberg sign | - |
| Progressive | - |
| Rigidity | - |
| Seizures | - |
| Urinary incontinence | - |
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.
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your 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.
Gordon Research Conferences CAG Triplet Repeat Disorders and the associated Graduate Research Seminar
Saturday, June 22, 2013 -
Friday, June 28, 2013
Location: Waterville Valley Resort,
Waterville Valley,
NH
Description: The 2013 Gordon Research Conference on CAG Triplet Repeat Disorders will bring together top scientists from around the world to discuss high-impact, interdisciplinary research on CAG Triplet Repeat Disorders. The objective of the conference is to promote scientific discussion and facilitate interdisciplinary exchange by bringing leading researchers in the field together with a broad range of experts representing; clinicians, diagnosticians, neurobiologists, pathologists, geneticists and molecular biologists.
Contact: Miles Fabian(301) 594-3827fabianm@mail.nih.gov
Co-funding Institute(s): National Institute of Neurological Disorders and Stroke, Office of Rare Diseases Research
2009 Triplet Repeat Disorders Gordon Conference
Sunday, May 31, 2009 -
Friday, June 5, 2009
Location:
Waterville Valley,
NH
Description: The top two priorities of this conference were training and the communication of cutting-edge science in the area of CAG triplet repeat disorders. The focus of this conference was on areas of rapid advancement and latest developments. Speakers were selected for their expertise, recent contributions to the field, and ability to provide lively presentations. The structured discussion leaders were instructed to focus on issues that cut across each presentation in a session.
Contact: Dr. Margaret Sutherland, NINDS 301-496-5680
Co-funding Institute(s): National Institute of Neurological Disorders and Stroke
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The following diseases are related to Spinocerebellar ataxia 17. If you have a question about any of these diseases, you can contact GARD.
