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||
|5%-29% of people have these symptoms|
|Abnormal autonomic nervous system physiology||0012332|
|Percent of people who have these symptoms is not available through HPO|
|Abnormality of the musculature||
|Abnormality of the nervous system||
Neurological abnormality[ more ]
Sweating, increased[ more ]
Signs and symptoms begin before 15 years of age
Muscle pain[ more ]
Missed heart beat
Skipped heart beat[ more ]
Skin itching[ more ]
Dry mouth syndrome
Reduced salivation[ more ]
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.
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
Differential diagnosis includes erythromelalgia and secondary erythermalgia. In erythromelalgia, the burning pain and red congestion are usually unilateral or asymmetrically distributed with preferential involvement of one or more toes, the forefoot soles or fingertips. The platelet count is always elevated > 400 x 10 9/L, and aspirin relieves symptoms. Secondary erythermalgia is acquired, mostly develops at a later age and is invariably linked with the use of drugs or underlying disease (vasculitis, neuropathy). In contrast to erythromelalgia, the platelet count in both secondary and inherited primary erythermalgia is normal.
Visit the Orphanet disease page for more information.
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.
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
I suspect that I have erythromelalgia. What kind of doctor diagnoses this disorder? Could you explain the difference between primary and secondary EM? Is it known what causes the genetic mutation that leads to this condition? Is EM caused only by the mutation of this particular gene or do they suspect other causes as well? See answer
My otherwise healthy adult daughter has just been diagnosed with primary, idiopathic erythromelalgia based on extensive blood work ruling out other diseases. Her feet become hot and red when wearing socks and closed shoes for exercise and sometimes when her feet "dangle" for an extended period of time. She does not experience any pain. Her dermatologist has told her the cases she has seen have always had pain. Is there any way of knowing when pain commences--months, years, how long? Is it possible that this will just manifest with heat and redness? Will continuing to exercise and being in a hot environment cause the flares that are now pain free to speed up the onset of pain? See answer
I suffer from erythromelalgia. I recently began to take gabapentin without much relief. Can this medication successfully treat erythromelalgia? What other treatment options are available? See answer
My daughter and grandchildren have erythromelalgia. I have noticed that the frequency and intensity of their flare-ups increases when they eat pre-packaged and manufactured foods. I have also noticed that when I cook from scratch my grandchildren are flare-up free for longer periods of time. Is there any funding out there to help me start some research on the effects of cooking naturally for children with this condition?
How do doctors test for erythromelalgia? I have flare ups on my hands, feet, and face. See answer
I have been diagnosed with erythromelalgia, and received a prescription for mexiletine. I noticed on the patient information sheet that it said that this medication is an anti-arrhythmic used to treat irregular heartbeat. Have you heard about mexiletine being used for erythromelalgia? See answer