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 |
|---|---|---|
| Percent of people who have these symptoms is not available through HPO | ||
| Apathy | 0000741 | |
| 0000006 | ||
| Cerebral atrophy |
Degeneration of cerebrum
|
0002059 |
| Decreased number of peripheral myelinated nerve fibers | 0003380 | |
|
Dementia, progressive
Progressive dementia
[ more ]
|
0000726 | |
| Excessive daytime somnolence | 0001262 | |
| Hyporeflexia | 0001265 | |
| Impulsivity |
Impulsive
|
0100710 |
| Irritability |
Irritable
|
0000737 |
| Memory impairment |
Forgetfulness
Memory loss
Memory problems
Poor memory
[ more ]
|
0002354 |
| Osteomyelitis |
Bone infection
|
0002754 |
| Progressive | 0003676 | |
| Sensorineural hearing impairment | 0000407 | |
| Sensory neuropathy | 0000763 | |
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.
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
This condition has been in my family for many generations on my mother's side. I'm soon planning on being tested for it but I was wondering if there are ways remove the genetic mutation or ways to slow it down. If one day I decide to have a baby, is there a way to remove this gene to make sure it isn't passed on? See answer
My son recently learned that his father and grandmother had mutations in the DNMT1 gene. This gene has been tied to hereditary sensory and autonomic neuropathy type 1E. Do you have information on how this condition might be treated?
See answer
