Werner syndrome
Werner syndrome
Werner syndrome (pronounced: VUR-ner SIN-drome), also known as Adult Progeria or Werner's syndrome, is a rare, autosomal recessive disorder which is characterized by the appearance of premature aging.
Etymology
The syndrome is named after the German scientist, Otto Werner, who first described the condition in 1904.
Definition
Werner syndrome is a genetic disorder that causes an individual to age more rapidly than normal. It is classified as a segmental progeroid syndrome. People with this condition typically grow and develop normally until they reach puberty. Following puberty, they begin to display signs of accelerated aging, such as wrinkled skin, baldness, cataracts, and an increased risk of developing diabetes mellitus and cancer.
Symptoms
The symptoms of Werner syndrome include:
- Premature aging
- Baldness
- Cataracts
- Skin atrophy
- Diabetes mellitus
- Increased risk of cancer
Causes
Werner syndrome is caused by mutations in the WRN gene. This gene provides instructions for producing a protein that is important for maintaining the structure and integrity of DNA. Mutations in the WRN gene disrupt the normal activity of the protein, leading to the premature aging observed in Werner syndrome.
Diagnosis
Diagnosis of Werner syndrome is based on the presence of characteristic clinical features. Genetic testing can confirm a diagnosis by identifying a mutation in the WRN gene.
Treatment
There is currently no cure for Werner syndrome. Treatment is supportive and based on the signs and symptoms present in each individual. This may include regular medical surveillance, management of diabetes, and treatment for cataracts.
Prognosis
The prognosis for individuals with Werner syndrome is generally poor, with a significantly reduced life expectancy. Most individuals with Werner syndrome live into their late 40s to early 50s.
See also
External links
- Medical encyclopedia article on Werner syndrome
- Wikipedia's article - Werner syndrome
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