'Werner Syndrome’ Symptoms: Rare Hereditary Disorder Leads to Premature Aging

One of the key hallmarks of the rare hereditary condition "Werner Syndrome" or "Adult Progeria" is premature aging. According to the Times of India, the condition starts during the early teenage years or young adulthood.

Werner Syndrome

According to MedlinePlus, those who battle the condition usually develop and grow normally until hitting puberty. Teenagers with rare illnesses typically do not experience growth spurts and are, thus, left with their short stature.

Premature aging characteristics among those with Werner Syndrome usually start in their 20s. The hallmark features typically include loss or graying of hair, a hoarse and rough voice, and hardened, thin skin. The facial appearance of those with the condition is also described as that of a bird. Several individuals with WS also have thin legs and arms and a thicker trunk because of the irregular deposition of fat.

VeryWellHealth notes that Werner syndrome would result in various health complications that must be monitored for a lifetime. Such complications may include dental concerns, skin ulcers, eye conditions, osteoporosis, endocrine disorders, diabetes, artery hardening, and fertility concerns.

Moreover, patients with this condition have heightened risk of developing fatal illnesses such as cardiovascular disease or cancer. Thyroid cancer, brain tumors, melanoma, bone cancer, leukemia, and soft tissue sarcomas are all common among those with WS.

What Leads to WS and Premature Aging?

As noted earlier, WS is a hereditary condition, which means that it is something that a person is born with. The syndrome is a mutation of the specific WRN gene, which can be found on the eighth chromosome.

This gene is in charge of managing the production of the Werner protein. Such a protein is perceived to play a role in the maintenance and repair of DNA. VeryWellHealth notes that specialists think this specific gene's mutation leads to WS syndrome, though they are unsure how.

For WS to be manifest, one must inherit the mutated gene from both parents. However, even if both parents are carriers of the mutated gene, it does not automatically mean that each child will inherit the condition. VeryWellHealth notes that there is usually one in every four children who develop the disorder.

Treatment and Life Expectancy

Werner Syndrome currently has no cure. Management of the condition mainly covers symptom management and complication treatments. Given how the condition affects various body parts, a diverse specialist team could work together to treat the rare condition.

For example, cataracts could be treated through surgery. Physical checkups could also help assess for diabetes, skin ulcers, cardiovascular conditions, or malignancies. The said malignancies could be handled through radiation, surgery, or chemotherapy.

Individuals with WS are also advised against smoking. It is also recommended that they maintain a healthy lifestyle, which involves a regular and low-fat diet. Counseling may also support patients and family members of those dealing with WS.

Check out more news and information on Werner Syndrome in Science Times.