Paroxysmal extreme pain disorder

Common Name(s)

Paroxysmal extreme pain disorder

Paroxysmal extreme pain disorder, formerly known as familial rectal pain, is characterized by paroxysms of rectal, ocular, or submandibular pain with flushing ({2:Fertleman et al., 2006}).
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Paroxysmal extreme pain disorder" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Paroxysmal extreme pain disorder" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Paroxysmal extreme pain disorder" returned 5 free, full-text research articles on human participants. First 3 results:

Nav1.7 mutations associated with paroxysmal extreme pain disorder, but not erythromelalgia, enhance Navbeta4 peptide-mediated resurgent sodium currents.
 

Author(s): Jonathan W Theile, Brian W Jarecki, Andrew D Piekarz, Theodore R Cummins

Journal: J. Physiol. (Lond.). 2011 Feb;589(Pt 3):597-608.

 

Abnormal pain sensitivity associated with inherited and acquired pain disorders occurs through increased excitability of peripheral sensory neurons in part due to changes in the properties of voltage-gated sodium channels (Navs). Resurgent sodium currents (I(NaR)) are atypical currents ...

Last Updated: 2 Feb 2011

Go To URL
NaV1.7 gain-of-function mutations as a continuum: A1632E displays physiological changes associated with erythromelalgia and paroxysmal extreme pain disorder mutations and produces symptoms of both disorders.
 

Author(s): M Estacion, S D Dib-Hajj, P J Benke, Rene H M Te Morsche, E M Eastman, L J Macala, J P H Drenth, S G Waxman

Journal: J. Neurosci.. 2008 Oct;28(43):11079-88.

 

Gain-of-function mutations of Na(V)1.7 have been shown to produce two distinct disorders: Na(V)1.7 mutations that enhance activation produce inherited erythromelalgia (IEM), characterized by burning pain in the extremities; Na(V)1.7 mutations that impair inactivation produce a different, ...

Last Updated: 23 Oct 2008

Go To URL
Paroxysmal extreme pain disorder M1627K mutation in human Nav1.7 renders DRG neurons hyperexcitable.
 

Author(s): Sulayman D Dib-Hajj, Mark Estacion, Brian W Jarecki, Lynda Tyrrell, Tanya Z Fischer, Mark Lawden, Theodore R Cummins, Stephen G Waxman

Journal:

 

Paroxysmal extreme pain disorder (PEPD) is an autosomal dominant painful neuropathy with many, but not all, cases linked to gain-of-function mutations in SCN9A which encodes voltage-gated sodium channel Nav1.7. Severe pain episodes and skin flushing start in infancy and are induced ...

Last Updated: 1 Oct 2008

Go To URL

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Paroxysmal extreme pain disorder" returned 0 free, full-text review articles on human participants.

 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.