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)|
(present in 5%-29% of cases)
|Abnormality of the musculature||-|
|Autosomal dominant inheritance||-|
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.
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.
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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