What is Werner Syndrome?

What is Werner Syndrome?

Werner syndrome is a rare yet devastating disease that develops due to mutations in the WRN gene which lies on chromosome 8 in humans. It is the most common among premature aging syndromes collectively called progeria. Werner syndrome currently affects 1 in 100,000 people in the United States, but 1 in 20,000-40,000 people in Japan and 1 in 50,000 in Sardinia, an island off the coast of Italy.

The disease is characterized by symptoms of accelerated aging such as:

  • wrinkles
  • gray hair and hair loss
  • bilateral cataracts
  • loss of body strength
  • osteoporosis
  • short stature
  • premature arteriosclerosis
  • atherosclerosis
  • type 2 diabetes

Individuals with Werner syndrome grow and develop normally until around puberty but do not experience a typical growth spurt as most children do around this age. While the youngest person diagnosed with the disorder was 6 years old, the average age for diagnosis is around 24 years of age. The average life expectancy is much shorter, at around 46.

In 1903, the German medical student, soon to become physician, Otto Werner observed this condition among four siblings. One year later, he wrote about it in his dissertation and called it Werner syndrome.

There currently is no cure for the syndrome. Managing symptoms of the co-occurring disorders and enhancing quality of life are the two main goals of treatment. A combination of medications, diet, lifestyle modifications, and sometimes surgery are used to help individuals with pain, diabetes and heart issues.

If you’re interested in watching a popular movie about an individual who ages four times faster than others, I recommend Jack, starring Robin Williams.