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Hunter syndrome is an X - linked recessive disorder characterized by grim or no output of a specific enzyme mean to break down complex sugar molecule in the body . It develops more normally in boys and represents its presence at the age of 2 to 4 years . It can range from mild to severe shape . Its symptom let in abnormal facial features , blown-up read/write head , protrude tongue , hoarse voice , joint rigorousness , and many others . It is difficult to diagnose this disease . There is no cure for this disease .
Can Hunter Syndrome Be Reversed?
Hunter syndrome is chromosomal disease and once it develops in the body , it can not be reversed . It is not curable . enquiry is going on to develop gene therapy to replace the defective part of the X chromosomes.(1 )
Hunter syndrome is also eff as mucopolysaccharidosis eccentric II or MPS II . It is an 10 - associate disorder that pass to a lack of an enzyme mean to the breakdown of complex carbohydrates and mucopolysaccharide . It leads to a buildup of these molecules in the organ and tissue . It may damage the organs and result in toxicity . It is make due to defective genes in ten chromosome . It is more commonly seen in boys than in girls . It can develop in any ethnic group . However , it is more discovered in Jewish hoi polloi who live in Israel .
Hunter Syndrome Treatment
discourse is aimed to belittle the symptoms and prevent farsighted - term damage to the various voice of the organic structure . It can be treat with the following ways-
Enzyme Replacement Therapy – the deficient enzymes are supplant by specific enzyme named Elaprase through IV extract . This therapy is known as enzyme replacement therapy ( ERT ) . It can slow down the progress of the disease . It can relieve symptoms relate to movement , the stiffness of the joint , respiration , maturation , and facial features . It is effective only in cases where the disease has not impress the brain .
Bone MarrowAnd Umbilical Cord roue Transplants – bone pith and umbilical electric cord can be transplanted to produce the lacking protein in the body . These transplants are prepared from the new cells of a bone marrow donor or theme cell of the umbilical electric cord from newborn baby . This therapy is helpful to address this disease where the mind is involved . However , these treatments are gamey - danger ones and seldom preferred .
Physical Therapy – it can assist in enhancing the movement by reducing the rigor and pain in the joints .
Medicines Or Surgery – medicines such as melatonin can treat rest - related problem . Surgery or other medicinal drug can treat other symptoms .
Hunter Syndrome Causes
Hunter syndrome is triggered by abnormal genes inherit in X chromosome from the mother . This genetic blemish leads to accruement of mucopolysaccharide in turgid amount in blood and connective tissue paper . It is a reform-minded disease that head to developmental issues and decrease of life anticipation of the patient .
Hunter Syndrome Symptoms
The symptoms of hunting watch syndrome can be mild or severe . These symptoms do not appear shortly after birth . It commence after 2 to 4 years when enough harmful complex lucre molecules get is posit to disturb the introductory functions of the body . These symptoms include-
Conclusion
Hunter syndrome is an X - relate chromosomal disorder . It can not be cured or invert . Various treatment alternative are employed that can exempt the symptom and thin out the pace of forward motion of the disease , but it can not revoke the disorderliness . Genetic counseling can reduce the incidence of this upset in the tike .
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