Werner Syndrome – Causes, Symptoms, and Risk Factors

Werner syndrome is a disorder that causes a person to experience aging too quickly and unusual (progeria). Signs of aging, including wrinkles, white hair and loss – can appear in your 20s. Meanwhile, when entering the age of 30, a person can experience cataracts, type 2 diabetes, skin ulcers, split nose, cancer, and osteoporosis. Some other designations for Werner syndrome are progeria in adulthood and atypical werner syndrome.

Symptoms of Werner Syndrome

Individuals with Werner’s syndrome have slow and abnormal growth, and there is a cessation of growth at puberty. As a result, the affected individual has a short stature and is relatively small in body weight towards height. At the age of 25, people with the disorder usually experience premature gray hair (canities) and premature scalp hair loss (alopecia).

During the disease, additional abnormalities include loss of layers of fat under the skin (subcutaneous adipose tissue), severe thinness (atrophy) of muscle tissue in certain areas of the body and degenerative changes in skin – especially in the face, upper arms and hands, and lower legs and legs (lower limbs). Because these degenerative changes affect the facial area, individuals with Werner Syndrome can have protruding eyes, small nose like beaks, and/or abnormal facial shapes.

Werner’s syndrome can also be characterized by high-pitched voice development, eye abnormalities, including cloudy lenses (senile bilateral cataracts), and certain hormonal disorders, such as disruption of ovarian function in women or testes in men (hypogonadism) or abnormal production of the hormone insulin from pancreas and insulin resistance so that individuals affected by diabetes mellitus are non-insulin dependent. In addition, individuals with Werner syndrome can experience progressive thickening of the arterial wall and loss of elasticity of the arterial wall (arteriosclerosis).

Risk of Werner Syndrome

Vascular involvement is typically in arteries that carry oxygen-rich blood to the heart muscle (coronary arteries). Some individuals also experience benign (benign) and malignant (malignant) tumors. Progressive arteriosclerosis, cancer, and/or other associated abnormalities will provide life-threatening complications at the age of 40 years or 50 years. Because Werner’s syndrome is passed down with an autosomal recessive parental gene, consult your doctor immediately about your body’s condition if you do have Werner’s syndrome.

Werner’s syndrome is a very rare disease. It is estimated that 1 in 200,000 people in the United States has Werner syndrome. Werner’s syndrome is somewhat more common in Japan and Sardinia in Italy, where it is estimated that 1 in 30,000 people may have the condition. This is because genetic mutations are known to have occurred several generations ago, when the country’s population was smaller in number, and over time genetic mutations have been reduced repeatedly to affect higher numbers of people.

Guidelines for the diagnosis of Werner’s syndrome have been proposed but can change over time as more learn about this condition. Genetic testing for mutations in the WRN gene is only available as part of a research study (clinical trial). Mutations in the WRN gene are found in about 90% of people with Werner’s syndrome. The rest may be caused by gene mutations that have not been discovered by researchers.

Leave a Reply

Your email address will not be published. Required fields are marked *

Back to top button