Werner Syndrome

From WikiGenetics

1 Name of Condition
2 Definition
3 Description, Signs and Symptoms
4 Inheritance
5 Demographics
6 Diagnosis
7 Treatment and Management
8 Prognosis
9 Resources
10 References

[edit] Name of Condition

Werner Syndrome, also known as Progeria or Adult Progeria.

[edit] Definition

Werner Syndrome is a rare inherited disorder that causes premature aging. Genetic defects cause short stature and the manifestation of aging in middle age, so that by the 4th or 5th decade of life, a person appears decades older than they really are.

[edit] Description, Signs and Symptoms

Children with Werner Syndrome have a slow growth rate, and usually stop growing altogether at puberty. As a result, affected individuals have short stature and low weight. By age 25, patients typically experience hair graying and hair loss. Over time, additional abnormalities may include loss of body fat, muscle atrophy, degeneration of skin particularly in the facial area, arms, hands, lower legs, and feet. Facial changes may cause individuals with Werner Syndrome to have prominent eyes, a beaked nose, or other characteristic facial abnormalities.

As the disease progresses, it may also be characterized by the development of a high-pitched voice, and symptoms typical of aging such as cataracts, hypogonadism, diabetes mellitus, arteriosclerosis, and susceptibility to cancer. Some of these abnormalities may cause life-threatening complications.

[edit] Inheritance

Werner Syndrome follows and autosomal recessive pattern of inheritance. It is due to a mutation at the WS gene (WRN Locus) which causes malfunction of DNA helicase, which is an enzyme responsible for DNA repair and replication. During normal aging, DNA degrades slightly when it replicates, which causes the typical aging process that humans experience. With Werner Syndrome, due to the defective DNA helicase, the DNA degrades more rapidly than normal and causes premature aging.

[edit] Demographics

In the United States, prevalence of Werner Syndrome is about 1 in every 200,000 people. It is more common in Japan, where it may affect between 1 in 20,000 and 40,000 people. It affects men and women equally, and the average age of diagnosis is 37.

[edit] Diagnosis

Diagnosis of Werner Syndrome is usually made once the person has begun to experience the symptoms of premature aging. Average age of diagnosis is 37 years old.

[edit] Treatment and Management

Werner Syndrome is managed by treating symptoms, although there is no particular course of treatment for the condition itself.

[edit] Prognosis

Average life expectancy for people with Werner Syndrome is to the mid-50s. Some people have milder forms of the disease, or a late-onset form, and these individuals may survive later.