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How To Cope With Hunter Syndrome & Who Is At Risk?

Hunter syndrome is a genetic disorder, which is mainly caused by the malfunctioning of the enzyme. Body of the patient suffering from this type of syndrome fails to produce iduronate 2-sulfatase enzyme. This enzyme helps in breaking big molecules in to fine particles but in the absence of these enzymes the molecules starts to pile up in huge amount, which is harmful. When these molecules pileup in huge amount then it can cause either permanent or temporary damage to the body, which can affect mental health, physical ability, organ function and so on.

As such both men and women can develop this problem, but research report reveal that boys are more prone to develop this problem compared to girls. This heath disorder is also known as MPS II. Till date no effective treatment is discovered by doctors that can cure this problem completely, but proper treated can help in managing the symptoms and other related complications:

Hunter syndrome symptoms vary and range from mild to severe. Symptoms are not present at birth, but often begin around ages 2 to 4 as the harmful molecules build up.

How To Cope With Hunter Syndrome?

Joining a group of people suffering from Hunter syndrome can be helpful in knowing about the different ways and strategies to cope up with the condition. It also gives encouragement and positive attitude for fighting the problem. One can ask their doctor, if they know about any such group. Child suffering from this problem constantly needs attention and care, which can affect the parents or the caretaker both physically, mentally as well as emotionally. They may feel exhausted, hence; it is suggested that if by any chance respite care is available then one must opt for that as this way one can get some break and properly cope with hunter syndrome. (1) (2)

Some of the common symptoms of hunter syndrome include; sore throat, increase head size, broad nostrils and lips, stiffness in joints, diarrhea, slow development and skeletal irregularities. Hunter syndrome is a very rare problem but if you see any changes in your children’s face or any other symptoms discussed above then make sure to take your child for a primary checkup to a physician. After examination; physician will decide whether the patient need to be referred to a specialist for further examination or not.

Who Is At Risk?

It has been observed that Hunter syndrome is caused when a child inherits the infected chromosome from the mother. This infected chromosome limits or stops the production of an important enzyme which is required for breaking complex molecules into small particles. Absence of this enzyme leads to pilling up of all the complex molecules in the cells, which can cause either temporary or permanent damage to the body. (3)

Broadly there are two major risk factors involved with Hunter syndrome:

Family History– As discussed above Hunter syndrome is caused when an infected chromosome is passed from parents to the child. The problem is also known as X-linked recessive disease because it is caused by X chromosome carried by women and can pass it next generation. In most of the cases the mothers are not even aware that they are affected or have defective chromosome.

Sex– it has been observed that Hunter syndrome mostly occur in males compared to females. Girls are less prone to develop this problem because they have two X chromosomes. Hence, if one X chromosome is defective then the other one can manage the condition. It is only when both the X chromosomes are defected then girl face this problem.

A series of complications can occur because of Hunter Syndrome, which mainly depends on the type as well as the severity of the problem. Hunter Syndrome can affect heart, lungs, bones & joints, nervous system, connective tissues and so on. One should immediately start the treatment after the problem is diagnosed. Treatment will not be able to cure the problem, but it will help in managing the symptoms.

References:

  1. https://www.nchmd.org/education/mayo-health-library/details/CON-20155223
  2. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3722040/
  3. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4312709/

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Team PainAssist
Team PainAssist
Written, Edited or Reviewed By: Team PainAssist, Pain Assist Inc. This article does not provide medical advice. See disclaimer
Last Modified On:April 23, 2019

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