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What is Werner Syndrome?
Werner syndrome is named after a scientist Otto Werner of Germany . It is also called ‘ adult progeria ’ . It is authoritative to know about the causes , symptom , diagnosing and treatment of Werner Syndrome .
Progeria is a Grecian word which means ‘ before sometime historic period ’ ; it is a very rarified disease . Growth of individuals is normal until puberty . Normal teen show growth spirt duringpuberty , on the other hired hand , the teenagers who have Werner syndrome do not show any growth jet . Instead , they have ashort stature . The common feature of aged individuals likegray haircloth , skin wasting , red ink of fat , wrinkling , etc . are seen in the moved person in the age of twenties . It is an autosomal recessionary disorderliness .
Epidemiology of Werner Syndrome
relative incidence of Werner syndrome all around the world is found to be approximately one in million births . It is found that the relative incidence charge per unit is around 1 in 200000 hoi polloi in the United Status and more in Japan ( one in 20,000 – 40,000 ) and in Sardinia ( one in 50,000).1
Symptoms of Werner Syndrome
Werner syndrome is keep in the teenagers and reaches its maximum in new adults . The affected individuals reach the maximum height by the years of 13 - 14 yr . The principal characteristic clinical lineament of Werner syndrome revolve around accelerated aging.2
Problems related to to Hair in Werner Syndrome- Graying of whisker , unusual hair fall in teenaged , loss of hairs of eyebrows and eyelash , absence of hair in underarm country , pubic area and on the trunk in males are some of the symptoms related to hair in Werner Syndrome .
problem related to Eye- Early cataract , expiration of transparency of lens system , accrual of calcium deposit , chorioretinitis , and retrogression of sensory cell of eye .
Poorly Developed lowly Sexual Characters- Hypogonadism is ordinarily see both in male and female suffer from Werner Syndrome , poor sexual ontogeny , an unusual developing penis and bollock in males , underdeveloped breast and spare or unorthodox menstruation in females . The somebody in maximum cases are infertile .
problem Related to off-white in Werner Syndrome - Osteoporosis , indurate of indulgent tissues like ligaments , tendons due to abnormal accumulation of calcium are also some of the symptoms of Werner Syndrome .
Werner Syndrome Related Problems of Skin- Ulceration of the pelt is also found . The open sores are also referred to as ulcers . It fall out due to ischaemia ( lessen supply of oxygenated rakehell to the tissues ) . In some person , hyperpigmentation is also seen in arms and pegleg . Due to hyperkeratosis , ulcers can be catch in elbows and knees . Sclerodermais also seen in some individuals , going of adipose tissue beneath the skin .
Facial Appearance in Werner Syndrome- Face looks like ‘ abstract ’ , prominent heart , stiff ears , pinched nose , in some event the affected role may also have beaked nose .
job Related to Teeth- Dental problems are also a common symptom of Werner syndrome . Dental freakishness may be in the soma of abnormal ontogenesis or previous exit of teeth .
Other Symptoms of Werner Syndrome- Atrophy of outspoken cords , Arteriosclerosis , High pitched voice , type II diabetes ( noninsulin subordinate ) characterized by polydipsia , polyurea and polyphagia .
Causes of Werner Syndrome
During arranging of cistron , the want of WRN protein is find to be one of the main causes for Werner syndrome . desoxyribonucleic acid riposte is inhibited and early aging upshot occur . The gene expression in the patient resemble the genetic constitution come up in normal senescence . From one of the inquiry , it is found that the helicase variation is creditworthy for the disorder and the responsible cistron is not yet name due to many reason . This disease is most possibly seen in children whose parent are blood relations . This is an autosomal recessive disorder and is express if both the parents carry the disease gene . It is think from some research that sport on WRN gene deposit on eighth chromosome causes this disease .
Diagnosis of Werner Syndrome
Werner syndrome can be recognized after conducting a thorough examination . The diagnosis of Werner syndrome is made with the help of-
In some vitrine , it is difficult to distinguish the disease till 30 to 40 years . It can be detect and confirmed only after some specialized imaging studies , science lab tests .
Complications of Werner Syndrome
In patients suffer from Werner syndrome , there would be many complication which want to be attended at regular interval of prison term . The complications may include-
Treatment of Werner Syndrome
At present , Werner syndrome does not have any cure but some music for specific symptom would be helpful . Werner syndrome is treated by many health professionals because of its varied symptom and complication . discussion of Werner syndrome let in the utilisation of supportive therapies that imply many physician like oculist , endocrinologists , diabetologists , orthopaedist etc .
Some of the therapies that are utile in the treatment of Werner syndrome are listed here-
Diabetes in patients may be of mild eccentric and sometimes easy to manage with unwritten hypoglycaemic medicament .
Abnormalities of the center of affected individuals might be advised for operating theater to remove the lens in case of cataract and insertion of a corrective lens or crank . In some cases , it would be difficult for surgical procedure also as the Werner syndrome patients will be at a endangerment of wound dehiscence . In such cases , more care is to be demand .
In patients with Werner syndrome , chest painful sensation due to deficient oxygen supply to warmheartedness muscle is very common . Treatment of Werner syndrome include do thorax pain with specific medication as they have complication of coronary-artery disease and other cardiovascular abnormalities .
The patient with Werner syndrome are at risk of development of benign or malignant tumors . These are plow depending on the stage , grade and eccentric of the neoplasm . intervention include medication , anticancer drug , surgical process etc .
Prevention of Werner Syndrome
As the Werner syndrome disease is genetically transferred to the young , there is no specific method to prevent this disease . Sometimes , genetic testing of the await parents with family history might be helpful . Before planning a kid , counsel would be helpful for the couplet who have a family history . However , people are counsel to lead a good lineament of life by consuming well balanced dieting , avoiding junk food , avoiding smoke and alcohol . Any individual who experiences bureau painfulness or sudden weight loss or get hold any strong-arm variety , must be brought to the poster of the physician .
Conclusion
Werner syndrome is a familial upset which passes from parents to children . The child have the higher chance of get Werner syndrome if both the parents have recessive cistron of this disease . It is a very rare autosomal factor upset . genic counseling for the individuals with Werner syndrome and their families would be helpful . living span of patients with Werner syndrome is relatively short than the normal individuals .
References
