Muckle-Wells syndrome

Common Name(s)

Muckle-Wells syndrome

Muckle-Wells syndrome is an autoinflammatory disease, and the intermediate form of cryopyrin-associated periodic syndrome (CAPS). Signs and symptoms may include recurrent episodes of fever, skin rash, joint pain, abdominal pain, and pinkeye; progressive sensorineural deafness; and amyloidosis. It is caused by mutations in the NLRP3 gene and is inherited in an autosomal dominant manner. Treatment includes a medication called Anakinra during acute episodes.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Muckle-Wells syndrome" for support, advocacy or research.

Autoinflammatory Alliance

The Autoinflammatory Alliance is a 501 (c)(3) non-profit public charity dedicated to promoting awareness, proper diagnosis and treatment, and improved care for people with autoinflammatory diseases. We started in 2006 under the name, The NOMID Alliance with the same basic goal: to help patients with CAPS and other autoinflammatory diseases. We have a IRS approval as tax-exempt under both names.

Last Updated: 24 Jul 2015

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stopcaidnow.org

Our mission is simple-Educate, Provide Awareness, and Fund Researchers who are committed to finding a cure. StopCAIDnow(501c3) is focused on providing tools to better educate Doctor’s and the community on AutoInflammatory diseases. There is a need for an understanding of these diseases so proper diagnosis can be made, and treatment can be started. This will help alleviate the inflammation process, 7 the pain that comes with it. Proper diagnosis is urgent for the prognosis of these diseases. If left untreated damage to the tissues, organs & vision(for some) will not only be irreversible but devastating

Last Updated: 5 Mar 2013

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Muckle-Wells syndrome" for support, advocacy or research.

Autoinflammatory Alliance

The Autoinflammatory Alliance is a 501 (c)(3) non-profit public charity dedicated to promoting awareness, proper diagnosis and treatment, and improved care for people with autoinflammatory diseases. We started in 2006 under the name, The NOMID Alliance with the same basic goal: to help patients with CAPS and other autoinflammatory diseases. We have a IRS approval as tax-exempt under both names.

http://www.autoinflammatory.org

Last Updated: 24 Jul 2015

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stopcaidnow.org

Our mission is simple-Educate, Provide Awareness, and Fund Researchers who are committed to finding a cure. StopCAIDnow(501c3) is focused on providing tools to better educate Doctor’s and the community on AutoInflammatory diseases. There is a need for an understanding of these diseases so proper diagnosis can be made, and treatment can be started. This will help alleviate the inflammation process, 7 the pain that comes with it. Proper diagnosis is urgent for the prognosis of these diseases. If left untreated damage to the tissues, organs & vision(for some) will not only be irreversible but devastating

http://www.stopcaidnow.org

Last Updated: 5 Mar 2013

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General Resources

Comparison Chart of Systemic Autoinflammatory DIseases

This comparative chart of Autoinflammatory Diseases lists symptoms, lab findings, genetic mutations and images for each disease.

Updated 15 Aug 2013

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Healthier Ever After (injection tips book & program)

This child-friendly book is for patients and their families to learn how to manage their injectable medications, and has a program to help children to discuss and make a plan of care, and goals with rewards to chart on a reusable white board page.

Updated 6 May 2015

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Arts and Literature

CAPS medical guidebook.

Medical guidebook about Cryopyrin-Associated Periodic syndromes (CAPS).

Updated 6 May 2015

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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 "Muckle-Wells syndrome" returned 25 free, full-text research articles on human participants. First 3 results:

Early detection of sensorineural hearing loss in Muckle-Wells-syndrome.
 

Author(s): Jasmin B Kuemmerle-Deschner, Assen Koitschev, Pascal N Tyrrell, Stefan K Plontke, Norbert Deschner, Sandra Hansmann, Katharina Ummenhofer, Peter Lohse, Christiane Koitschev, Susanne M Benseler

Journal:

 

Muckle-Wells-syndrome (MWS) is an autoinflammatory disease characterized by systemic and organ-specific inflammation due to excessive interleukin (IL)-1 release. Inner ear inflammation results in irreversible sensorineural hearing loss, if untreated. Early recognition and therapy ...

Last Updated: 4 Nov 2015

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Muckle-Wells syndrome in an Indian family associated with NLRP3 mutation.
 

Author(s): M C Abdulla, J Alungal, P N Hawkins, S Mohammed

Journal: J Postgrad Med. ;61(2):120-2.

 

Muckle-Wells syndrome (MWS) is a rare autosomal dominant disease that belongs to a group of hereditary periodic fever syndromes. It is part of the wider spectrum of the cryopyrin-associated periodic syndrome (CAPS) which has only rarely been described in non-Caucasian individuals. ...

Last Updated: 13 Mar 2015

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Challenges in diagnosing Muckle-Wells syndrome: identifying two distinct phenotypes.
 

Author(s): Jasmin B Kuemmerle-Deschner, Samuel Dembi Samba, Pascal N Tyrrell, Isabelle Koné-Paut, Isabelle Marie, Norbert Deschner, Susanne M Benseler

Journal: Arthritis Care Res (Hoboken). 2014 May;66(5):765-72.

 

The diagnosis of Muckle-Wells syndrome (MWS) remains challenging due to the clinical heterogeneity and lack of diagnostic criteria. The aims of this study were to describe key elements of the diagnostic evaluation process in MWS and compare identified variables between patients diagnosed ...

Last Updated: 23 Apr 2014

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Muckle-Wells syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

[Biological and clinical aspects of Muckle-Wells syndrome].
 

Author(s): Tetsuo Kubota, Ryuji Koike

Journal: Nihon Rinsho Meneki Gakkai Kaishi. 2007 Apr;30(2):114-22.

 

Muckle-Wells syndrome (MWS), as well as familial cold autoinflammatory syndrome (FCAS) and chronic infantile neurological cutaneous and articular syndrome (CINCA), arises from a missense mutation in the CIAS1 gene. Current progress of biology revealed that NALP3, a protein coded by ...

Last Updated: 2 May 2007

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

HL2351 CAPS Phase II Study
 

Status: Recruiting

Condition Summary: Cryopyrin‑Associated Periodic Syndromes (CAPS)

 

Last Updated: 28 Jul 2016

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