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What is Werner Syndrome? Symptoms, Diagnosis and Treatment

Werner syndrome, or progeria, is a fairly rare hereditary disease. that consists of premature aging. That’s to say, at 20 or 30 years of age, people with this disease have many characteristics of older people.

Experts aren’t exactly sure how many people are affected, but they estimate that there’s one case in every 200,000 people. However, there are only about 1300 documented cases. Interestingly, most of them have occurred in Japan.

Werner syndrome produces some very characteristic features. Sufferers are usually short in stature and have a physique that would typically be found in a very old person. For example, with wrinkles and gray hair. However, appearance isn’t the only aspect that this syndrome affects.

In this article, we’ll explain everything you need to know about Werner syndrome.

What is Werner Syndrome?

Werner syndrome–also called progeria in adults–is an autosomal recessive disease. The cause of this pathology lies in a gene mutation, namely the WRN gene.

Sufferers are completely normal at birth and throughout childhood. In fact, the first manifestations usually appear between 20 and 30 years of age. However, during adolescence, there’s an indicative sign: there’s no growth spurt typical of puberty.

As we’ve already mentioned, the most obvious symptoms are related to appearance. These individuals are usually of short stature, with skin blemishes typical of aging, and gray hair. Their skin is also thinner and their voice is often altered.

However, this isn’t the most relevant aspect of Werner syndrome. The problem is that these people are more prone to certain diseases. First of all, they often suffer from osteoporosis and atherosclerosis. Cataracts also affect them.

In addition, they tend to have poorer hearing and have stiffer and sore joints. Almost any affectation typical of a person over 65 is possible.

What other diseases are related to Werner syndrome?

This syndrome is often accompanied by other skin problems, such as ankle ulcers. In addition, it’s typical to find an association with diabetes mellitus. Normally, age also acts as a risk factor for this disease.

People with Werner syndrome have a much higher risk of developing cancer. Most commonly, it’s melanoma, which is a type of skin cancer. There’s also a high incidence of sarcomas.

However, the main cause of death in these people is different. Most die from a heart attack because atherosclerosis usually spreads faster than in healthy people.

How is Werner syndrome diagnosed?

Diagnosing Werner syndrome can be complicated, as it’s a rare disease. However, most of the time, it’s simply a question of observing these people correctly. The symptoms are quite obvious in almost all cases.

If cytology isn’t enough, genetic testing can be done to look for the mutation in the gene. Once a person has been diagnosed, it’s important to explain all the characteristics of the disease.

As it’s a hereditary disease, the patient must be informed that his or her children may develop the same syndrome. For this reason, it’s sometimes advisable for other members of the family to undergo genetic testing.

Is it possible to treat and live with Progeria?

Unfortunately, there’s no cure for this disease. Treatment is based on controlling all the associated diseases that appear. And this requires frequent tests and examinations.

In addition, psychological support is essential, as living with this disease can be very difficult. Although it’s a rare disease, Werner syndrome is very serious due to how much it affects the sufferer.

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