Muckle
Muckle-Wells Syndrome
Muckle-Wells Syndrome (pronounced: muck-ul wells sin-drome), also known as MWS or Urticaria-deafness-amyloidosis (UDA), is a rare genetic disorder. It is part of the larger family of diseases known as Cryopyrin-Associated Periodic Syndromes (CAPS).
Etymology
The syndrome is named after Thomas James Muckle and Michael Vernon Wells, who first described the condition in 1962.
Definition
Muckle-Wells Syndrome is characterized by recurrent episodes of fever, skin rash, joint pain, and various other symptoms. It is caused by mutations in the NLRP3 gene, which is involved in the body's immune response.
Symptoms
The symptoms of Muckle-Wells Syndrome can vary greatly between individuals. They may include:
- Fever
- Skin rash
- Joint pain
- Progressive hearing loss
- Amyloidosis, a condition where an abnormal protein, amyloid, builds up in tissues and organs
Diagnosis
Diagnosis of Muckle-Wells Syndrome is based on the presence of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and specialized tests such as genetic testing.
Treatment
Treatment for Muckle-Wells Syndrome is focused on managing symptoms and preventing complications. This may include medications to reduce inflammation and fever, hearing aids for hearing loss, and in severe cases, kidney transplantation for amyloidosis.
Related Terms
- Cryopyrin-Associated Periodic Syndromes (CAPS)
- Familial Cold Autoinflammatory Syndrome (FCAS)
- Neonatal Onset Multisystem Inflammatory Disease (NOMID)
External links
- Medical encyclopedia article on Muckle
- Wikipedia's article - Muckle
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