Progeria Type 2 (Werner Syndrome)

Type 2 progeria, also known as Werner syndrome, is a genetic defect. The word progeria comes from the Latin and means “premature aging”. Werner syndrome was first described by the Kiel doctor CW Otto Werner in 1904.

Progeria Type 2 (Werner Syndrome)

What is Progeria Type 2?

The genetic error in the genome occurs very rarely. If a person is affected by Werner syndrome, premature aging occurs, with patients having a life expectancy of around fifty years. See healthknowing for What is the Definition of Catatonic Schizophrenia.

In contrast to the more well-known type 1 progeria, type 2 does not appear in childhood, but only in adulthood. In progeria type 2, there are not only early external factors in the aging process, but also age-related diseases and side effects.


The cause of premature aging lies in the DNA, more precisely on the short arm of chromosome 8, where the gene RECQL1 is mutated. The DNA, which is found in a kind of tangle in the cell nucleus, has a lack of helicase, a special protein.

In order to carry out its normal functions, the DNA must be unwound, which is what the DNA helicase is responsible for. Due to the disruption that occurs, the DNA is converted incorrectly during replication, which leads to developmental disorders and concomitant diseases. The DNA helicase is also responsible for removing errors in the DNA, which leads to an increased risk of cancer if there is a defect.

This special protein also protects the telomores of the chromosomes, i.e. the ends of the DNA, from premature degradation. In progeria type 2, these are broken down by the existing defect, which means that the cell can no longer divide. This reduces the frequency of cell division and increases cell aging due to low cell division.

Symptoms, Ailments & Signs

The symptoms of this disease do not appear until adulthood. The growth spurt that occurs during puberty does not occur. Instead, from this point on, the signs of premature aging gradually become visible. By the age of 20, the hair has already turned gray; they often look thin and thin. Those affected have grown much smaller than their peers.

They often have flat feet. The face is narrow while the eyes look relatively large. As the fatty tissue under the skin breaks down as it does in older people, the skin appears thinner and more translucent. It may be wrinkled or stretch over the bone. In the further course, age spots form and increased cornification of the skin begins.

For many sufferers, the voice changes. It sounds high, thin and rather weak. The patients are mostly infertile because the function of the gonads is also restricted. As a side effect of premature aging, there are usually other diseases.

Osteoporosis can occur, which is associated with increased fractures. Cataracts, diabetes mellitus or arteriosclerosis are also possible. The latter can lead to a stroke or heart attack. The risk of tumor diseases is increased. Melanoma is the most common. The life expectancy of those affected by Werner syndrome is shortened.

Diagnosis & History

The first symptoms usually appear during puberty, since the usual growth spurt does not occur there. Childhood, on the other hand, passes without further signs. People’s bodies change rapidly, making them look exceptionally old by the time they’re in their 30s or 40s. Type 2 progeria is usually noticeable because patients develop a face that is usually bird-like and a weak, squeaky voice.

The skin changes particularly strongly due to the severely restricted cell division. It becomes thin and wrinkled and is often heavily pigmented. The sub-fatty tissue of the skin partially recedes, so that the skin loses its firmness and the body loses its important fat deposits. The hair will also shake. It quickly turns gray and loses its natural density and thickness.

Werner syndrome also causes many age-related diseases and comorbidities. Those affected have a greatly increased risk of cancer because the DNA helicase no longer corrects the errors in the genetic material. This often leads to mutations and thus to tumor diseases. They also often suffer from diabetes mellitus, the typical age-related diabetes, and eye diseases such as cataracts.

Progressive muscle atrophy is also quickly visible. As a result of type 2 progeria, those affected also suffer from osteoporosis, which often results in broken bones. Even the smallest loads can lead to fractures due to the increasing loss of bone density and increasing porosity. Arteriosclerosis occurs very frequently in Werner syndrome, resulting in an increased risk of stroke and heart attack. Weakness of the cremation glands, which can lead to infertility, is also one of the concomitant diseases.

The brain and central nervous system are unaffected by the disease, so nerve cells do not die and normal brain function is not affected.

Type 2 progeria is usually diagnosed based on specific physical symptoms. A genetic test is performed to confirm the diagnosis. Scientists assume that the Werner syndrome is based on the so-called recessive inheritance. Both parents must pass on the defective gene. However, this assumption has not yet been sufficiently clarified. It can be observed that Progeria type 2 often occurs in family marriages.


People with Progeria 2 have a genetic defect that leads to their typical complications. In these people, the aging process starts prematurely and accelerates, the skin becomes very wrinkled, the subcutaneous fat tissue recedes and they tend to have grey, thinning hair from an early age. Even at the age of 30 to 40, they look like old people. There is something birdlike about her face and her voice seems weak and squeaky.

Due to the accelerated aging process, these patients suffer from diseases at a younger age that normally only appear in old age, such as arteriosclerosis. This promotes heart attacks or strokes. In addition, their bone loss is faster and they suffer more from osteoporosis. Even with small loads there is a risk that your bones will break.

There is also an increased risk of developing cancer. Other complications include diabetes mellitus and cataracts. People with type 2 progeria also suffer from a congenital weakness of the gonads that leads to infertility. Due to the typical course of the disease, these people have a reduced life expectancy of around mid-fifties.

When should you go to the doctor?

If parents or relatives notice that the offspring is not having a growth spurt during puberty, a doctor should be consulted. This circumstance is to be understood as an alarm signal from the organism and should be followed up. If the affected person ages prematurely immediately afterwards, there is also cause for concern. A doctor should be consulted as soon as adult or elderly skin develops in the adolescent. Age spots, unusual wrinkling and an aged appearance should be presented to a doctor. Gray hair, thinning hair or severe hair loss as a young person are considered unusual.

A doctor’s visit is advisable so that a cause analysis can be initiated. If infertility is found or if there are changes in voice, a doctor is needed. The voice is often thin, quiet and not powerful. The entire demeanor of the affected person appears weak and marked by life to the people in the immediate vicinity. If more fractures occur, physical performance decreases rapidly or the person concerned complains of inner weakness, there is a need for action. A doctor should be consulted so that a treatment plan can be drawn up. If you feel generally unwell, feel ill or have an unusual impairment of your usual vision, you should consult a doctor.

Treatment & Therapy

Those affected by type 2 progeria receive symptomatic therapy because there is no way to cure the genetic defect. The doctors treating you try to alleviate the symptoms that arise and to prevent possible complications. It is primarily about ensuring patients the best possible quality of life and improving it as much as possible.

Doctors can treat diabetes mellitus symptomatically by teaching the patients to change their diet and treating them with insulin. Due to osteoporosis and the resulting increased risk of fractures, the residential facility should be geared towards the patients.

Tripping hazards such as exposed cables should be attached with care, ideally lying against the baseboards. Carpets should also be laid out wrinkle-free and fixed. Also, the apartment should be well lit due to the eye diseases suffered by the Werner syndrome patients.


Since Progeria type 2 is a genetic defect, it is difficult to prevent. Scientists point out that this genetic defect is passed on via a recessive inheritance. This means that both parents must carry the defective gene in order to pass the disease on to their child. It can be observed that Werner syndrome often occurs in family marriages. If there is a suspicion that one of the parents has the defective gene, a specific examination can provide clarity.


Since type 2 progeria cannot be treated, there are no options for aftercare in the classic sense. However, affected patients should go to the doctor at regular intervals to be examined. In the course of type 2 progeria, secondary diseases such as diabetes mellitus, clouding of the eyes or an unhealthy increase in cholesterol levels occur.

If these symptoms are recognized in time, appropriate treatment can be scheduled. Especially in the case of diabetes caused by progeria type 2, it is important that the patients receive the correct medication. Otherwise, there is a risk that the patient’s blood sugar will rise too high or fall so low that they will go into a sugar shock, which can be fatal.

An important goal, however, is to keep patients pain-free for as long as possible and to spare them strenuous or risky therapies. For this reason, doctors refrain, for example, from administering chemotherapy if cancer is found. The risk of progeria patients not surviving therapy would simply be too high.

Managing pain and preventing possible complications is achieved through a combination of medication and lifestyle changes. In addition, the patients also receive psychological care to prevent the occurrence of mental illnesses such as depression.

You can do that yourself

Suffering from Progeria Type 2 is very distressing. Psychotherapeutic support is therefore recommended. In addition, progeria should be treated symptomatically. This also includes regularly caring for the thinner skin of the patient and protecting it from sunlight. Creams with a high sun protection factor are suitable for this. Because of the increased risk of fractures, the apartment should be set up in such a way that patients cannot stumble and/or fall unnecessarily.

Patients with type 2 progeria are recommended to maintain a healthy lifestyle, for example to defy the increased risk of cancer. On the one hand, a healthy lifestyle includes avoiding toxins of all kinds, such as nicotine, alcohol or pollutants from the environment. On the other hand, patients should become active, do sports and eat healthily. This diet can be light, low in fat, and low in sugar. Diabetes mellitus can also be avoided in this way.

Since eighty percent of all immune cells are located in the intestine, patients can also use probiotics. These are preparations such as yoghurt or dietary supplements that contain living microorganisms. These microorganisms multiply in the intestines and contribute to the maintenance of the immune system there. If the immune system is in tact, diseases can be warded off or their course alleviated.