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Genetic and Rare Diseases Information Center (GARD)

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Muckle-Wells syndrome


Other Names for this Disease

  • Muckle Wells syndrome
  • UDA syndrome
  • Urticaria, deafness and amyloidosis
  • Urticaria-deafness-amyloidosis syndrome
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Your Question

Is there a written language expressive disorder, or component, noted with Muckle Wells syndrome? It would be helpful to know if there are any educational learning disabilities associated with this syndrome other than potential for hearing loss and related concerns with hearing loss.

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

Do people with Muckle-Wells syndrome have learning disabilities?

Learning disabilities, including expressive language disorders, are generally not reported as a feature of Muckle-Wells syndrome.

The gene responsible for Muckle-Wells syndrome, called NLRP3, is also responsible for related conditions including the less severe familial cold autoinflammatory syndrome and the more severe neonatal onset multisystem inflammatory disease (also called NOMID, or CINCA). These conditions are collectively called cryopyrin associated periodic syndromes (CAPS). Some authors have suggested that the signs and symptoms of people with NLRP3 gene mutations may overlap more than previously thought.[1] The features that typically distinguish NOMID from the other conditions include chronic aseptic meningitis, which can result in severe developmental delay and disability.[2] While people diagnosed with Muckle-Wells syndrome generally do not have chronic aseptic meningitis, mild features of NOMID have been reported in some people with Muckle-Wells syndrome.[2]
Last updated: 4/8/2014

References
  • Philip N. Hawkins, Helen J. Lachmann, Ebun Aganna, and Michael F. McDermott. Spectrum of Clinical Features in Muckle-Wells Syndrome and Response to Anakinra. ARTHRITIS & RHEUMATISM. February, 2004; 50(2):607-612. Accessed 4/8/2014.
  • Delwyn Dyall-Smith. NOMID/CINCA syndrome. DermNet NZ. December 29, 2013; http://dermnetnz.org/systemic/nomid-cinca.html. Accessed 4/8/2014.
Other Names for this Disease
  • Muckle Wells syndrome
  • UDA syndrome
  • Urticaria, deafness and amyloidosis
  • Urticaria-deafness-amyloidosis syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.