Orpha Number: 99027
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|
|30%-79% of people have these symptoms|
|Abnormal pyramidal sign||0007256|
|Dilatation of the bladder||0010955|
Impaired gait[ more ]
Low blood pressure
Difficulty getting a full erection
Difficulty getting an erection
Erectile dysfunction[ more ]
Involuntary, rapid, rhythmic eye movements
Involuntary muscle stiffness, contraction, or spasm
|5%-29% of people have these symptoms|
|Atrophy of the spinal cord||
Degeneration of the spinal cord
|Cerebral cortical atrophy||
Decrease in size of the outer layer of the brain due to loss of brain cells
Difficulty articulating speech
Swallowing difficulty[ more ]
Hearing defect[ more ]
Decreased ability to sweat
Sweating, decreased[ more ]
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation[ more ]
Loss of vision
Vision loss[ more ]
|Percent of people who have these symptoms is not available through HPO|
|Abnormal cerebellum morphology||
Abnormality of the cerebellum
Cerebellar anomaly[ more ]
|Abnormality of the urinary system||
Urinary tract abnormalities
Urinary tract abnormality
Urinary tract anomalies[ more ]
Symptoms begin in adulthood
|Autonomic bladder dysfunction||0005341|
|Autonomic erectile dysfunction||0008652|
|Decreased sweating due to autonomic dysfunction||0007480|
|Orthostatic hypotension due to autonomic dysfunction||0004926|
Worsens with time
|Progressive neurologic deterioration||
Worsening neurological symptoms
|Symmetric peripheral demyelination||0007262|
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.
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.
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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