| In the United States, an orphan or rare
| |
| | work. For example, the slippery joint
|
| disease occurs in less than 200,000
| |
| | fluid that lubricates your joints
|
| individuals. Also, there are some
| |
| | contains mucopolysaccharides. The rubbery
|
| diseases that only affect that many
| |
| | resilient cartilage in your joints is
|
| individuals in the entire world. Than
| |
| | another good example. All bodily tissues
|
| there are those diseases that are
| |
| | have some of the substance as a normal
|
| widespread in certain parts of the world
| |
| | part of their structure.The modern word
|
| but are rare in others. And there are
| |
| | for mucopolysaccharides is
|
| some diseases that are truly one-of-a
| |
| | glycos-amino-glycans or (GAG), which
|
| kind, usually due to a genetic defect.
| |
| | stands for sugar-amino-sugar polymer or
|
| The United States Office of Rare Diseases
| |
| | long repeating sugar chains found in
|
| (USORD) list over 6,000 diseases
| |
| | these materials. These sugar chains are
|
| considered rare in the United States;
| |
| | submicroscopic and cannot be seen with
|
| Hunter Syndrome is one of those
| |
| | the naked eyes, but can be studied using
|
| diseases.Historical Background: The
| |
| | special scientific instruments and
|
| National Mucopolysaccharide Society (MPS)
| |
| | analytical methods.To understand how GAG
|
| described Hunter Syndrome as a
| |
| | accumulate and cause MPS II, it is
|
| mucopolysaccharide (muco-poly-saccharide)
| |
| | important to know that in the course of
|
| storage disorder that is also called
| |
| | normal life, there is continuous process
|
| Mucopolysaccharidosis II (MPS II).Hunter
| |
| | of constructing new mucopolysaccharides
|
| Syndrome is named after Charles Hunter, a
| |
| | and breaking down old ones; a recycling
|
| professor of medicine of Manitoba,
| |
| | process. Interesting enough, this ongoing
|
| Canada, who first described two brothers
| |
| | process is necessary to keep your body
|
| with the disorder in 1917. Two types of
| |
| | healthy. This process of break down and
|
| Hunter Syndrome have been identified,
| |
| | recycling requires a series of special
|
| mild and severe. However, there are
| |
| | biochemical tools called enzyme. In order
|
| individuals with intermediate severity
| |
| | to successful break down GAG, a series of
|
| who do not fit neatly in either the
| |
| | enzymes or tools work in sequence one
|
| severe or the mild forms of the disease.
| |
| | after another to split the GAG into
|
| Studies have clearly shown that current
| |
| | pieces. Each enzyme in the process has
|
| understanding of the enzyme and its gene
| |
| | its special purpose in the body and does
|
| demonstrated that MPS II comprises a
| |
| | just one special function; like a
|
| broad spectrum of severity that
| |
| | screwdriver works on screws and a hammer
|
| individuals may be diagnosed from severe
| |
| | works on nails.According to several
|
| to mild Hunter with many individuals
| |
| | studies individuals with MPS II are
|
| falling somewhere in between.Researchers
| |
| | missing one specific enzyme called
|
| concluded that all individuals with
| |
| | iduronate sulfatase, which is essential
|
| Hunter Syndrome have a deficiency of the
| |
| | in the process to break down certain GAG
|
| enzyme iduronate sulfatase, which results
| |
| | called dermatan sulfate and heparin
|
| in the build up of mucopolysaccharides,
| |
| | sulfate. The incompletely broken down
|
| more recently called glycos-amino-glycans
| |
| | dermatan sulfate and heparin sulfate
|
| (GAG). The accumulation of GAG is
| |
| | remain stored inside cells in the body
|
| responsible for the many problems that
| |
| | and begin to build up, causing
|
| affect individuals with MPS II.So far,
| |
| | progressive damage. GAG itself is not
|
| there is no cure for individuals affected
| |
| | toxic but the amount of it and the effect
|
| with these disorders. However, there are
| |
| | of storing it in the body leads to
|
| means to manage the challenges that the
| |
| | multiple physical problems. Babies may
|
| individuals will experience, and assist
| |
| | show little sign of the disorder, but as
|
| them to live a productive life. Several
| |
| | more and more GAG accumulates symptoms
|
| treatments had been tried with limited
| |
| | begin to appear. Sugar or other foods
|
| success. Such as bone marrow
| |
| | normally eaten will not affect weather
|
| transplantation with poor results.
| |
| | there is more or less build up of
|
| Currently, enzyme replacement therapy is
| |
| | GAG.Individuals diagnosed with Hunter
|
| being studied, which may help some
| |
| | Syndrome almost always have
|
| individuals affected with MPS II.
| |
| | neurocognitive degeneration with
|
| Researchers continue to look for more
| |
| | progressive and profound mental
|
| effective method to treat these
| |
| | retardation. When the diagnosis is made
|
| disorders, and hopefully those affected
| |
| | in children younger than three years old
|
| will have more and better options
| |
| | a progressively severe decline in
|
| available in the near future.Even with
| |
| | intellectual functions occurs. Children
|
| stem cell transplant or enzyme
| |
| | with MPS II typically have the skeletal
|
| replacement therapy, individuals with MPS
| |
| | changes referred to as dysostosis
|
| II continue to have significant muscular
| |
| | multiplex. These individuals also
|
| and skeletal disabilities, more commonly
| |
| | exhibits progressive coarsening of facial
|
| involving the spine, hips, knees, and
| |
| | features, short stature, joint stiffness,
|
| hands. These are rarely life-threatening,
| |
| | hepatosplenomegaly, and hernias as common
|
| but frequently limit the individual
| |
| | presenting signs and symptoms.
|
| function, activity, and quality of life
| |
| | Individuals inflicted with MPS II may
|
| issues. Surgical intervention is often
| |
| | have popular skin lesions that are ivory
|
| required to optimize long-term function.
| |
| | in color and located on the upper back
|
| The timing and type of surgical
| |
| | and the lateral upper arms and thighs.
|
| intervention may vary among individuals
| |
| | Other skin lesions are hypertrichosis and
|
| and surgeons. Still, early evaluation is
| |
| | thickened skin. And extensive Mongolian
|
| important in determining proper
| |
| | spots associated with Hunter Syndrome
|
| treatment, and to optimize quality of
| |
| | have also been reported. These
|
| life for those affected with MPS II.How
| |
| | individuals tend to have severe mental
|
| Hunter Syndrome is Inherited: Hunter
| |
| | retardation and deafness. Other symptoms
|
| Syndrome has a different form of
| |
| | include cerebral ventricular dilation.
|
| inheritance from all other MPS disorders.
| |
| | The facial features of Hunter Syndrome
|
| Hunter Syndrome is a sex-linked disorder,
| |
| | are coarse, but the children still have
|
| meaning that it is transmitted on the
| |
| | faces that resemble other family
|
| female X-chromosome from mother to her
| |
| | members.Mildly affected children may
|
| children. In which case, the syndrome is
| |
| | behave in a normal manner and they can be
|
| most often seen in males. However, rare
| |
| | quite affectionate with a sunny nature.
|
| female cases have been reported. Hunter
| |
| | On the other hand, they can become
|
| Syndrome can occur in any ethnic group;
| |
| | short-tempered when frustration sets-in
|
| but a higher incidence has been reported
| |
| | due to physical limitations which often
|
| in the Jewish population living in
| |
| | make life very difficult. Children who
|
| Israel. Hunter Syndrome may occur as
| |
| | are mildly affected with MPS II should be
|
| frequently as one individual per 65, 000
| |
| | encouraged to be as independent as they
|
| births to as rarely as one individual in
| |
| | can; since many adults with Hunter
|
| 132, 000 births.As stated above, girls
| |
| | Syndrome lead a relatively normal and
|
| may be the carriers of the disease but
| |
| | enjoyable life.According to one study
|
| except in the rare case, only boys will
| |
| | done by the National MPS Society, many
|
| be affected. For example, if a woman is
| |
| | mildly affected Hunter adults have found
|
| the carrier for MPS II disorder, there is
| |
| | productive employment as a teacher of the
|
| a 50% risk that any male child born to
| |
| | deaf, a marine architect, and another a
|
| her will be a carrier for the disease. It
| |
| | sergeant in the army. As for education,
|
| is very important to remember that not
| |
| | it is suggested, that some MPS II
|
| all women with only one MPS II child will
| |
| | children could benifit from having a
|
| be carriers of the abnormal gene. For
| |
| | mainstreamed education enjoying the
|
| instance, if only one individual in a
| |
| | social interaction with peers. However,
|
| family has MPS II, the carrier status of
| |
| | it is very important that parents and
|
| the birth mother cannot be definitavely
| |
| | caretakers work closely with professional
|
| determined. However, if additional
| |
| | educators in the school system and
|
| affected individuals are known, than the
| |
| | develop the best Individualized Education
|
| mother of an MPS II child is assumed to
| |
| | Program (IEP) for children with Hunter
|
| be a carrier.The sisters and maternal
| |
| | Syndrome and other rare diseases.Finally,
|
| aunts of a person with Hunter Syndrome
| |
| | I believe that families, caregivers, and
|
| may also be carrier of the disorder and
| |
| | educators should go the extra mile to
|
| would have a 50% chance of passing the
| |
| | educate themselves about Hunter Syndrome
|
| abnormal gene to a son. It is strongly
| |
| | and other rare debilitating diseases that
|
| suggested that all families of
| |
| | inflict children at such an early age.
|
| individuals with Hunter Syndrome should
| |
| | However, too often, any developed thirst
|
| seek consultation from their medical
| |
| | for knowledge in this area may be left
|
| genetic doctor or a genetic counselor
| |
| | unsatisfied due to the lack of
|
| before planning to have additional
| |
| | information about these diseases
|
| children. It should be noted that
| |
| | available to the public. Nevertheless,
|
| analysis of enzyme level, in itself, is
| |
| | this barrier can be overcome with the
|
| not a reliable method to determine MPS II
| |
| | advancement in technology and more people
|
| carrier status for many individuals.What
| |
| | are introduced to the Internet.Dr William
|
| Causes MPS Disorders? Mucopolysaccharides
| |
| | Smith is a psychologist and consultant
|
| are a long chains of sugar molecules used
| |
| | with many years experience working with
|
| in the construction of bones, cartilage,
| |
| | individuals and groups. Dr Smith
|
| skin, tendons, and many other tissues in
| |
| | specializes in working with Adult
|
| the body. They form part of the structure
| |
| | Children of Alcoholics, and Survivors of
|
| of the body and also give the body many
| |
| | Sexual Trauma such as Rape and Incest.
|
| of the special features that make it
| |
| |
|
