icd 9 code for hunter syndrome

Full Answer

What is Hunter syndrome and how is it treated?

The buildup of massive amounts of these harmful substances eventually causes permanent, progressive damage affecting appearance, mental development, organ function and physical abilities. Hunter syndrome is far more common in boys. The condition is one type of a group of inherited metabolic disorders called mucopolysaccharidoses (MPSs).

How can I tell if my child has Hunter syndrome?

If your child is in pain, he or she will likely move less, which can lead to more stiffness and pain. The group of abnormalities typically seen in the bones of people with Hunter syndrome is called dysostosis multiplex. Children with these abnormalities can develop irregularly shaped vertebrae and spines, ribs, arms, fingers, legs, and pelvises.

What is the ICD-9 code for diagnosis?

ICD-9-CM 519.8 is a billable medical code that can be used to indicate a diagnosis on a reimbursement claim, however, 519.8 should only be used for claims with a date of service on or before September 30, 2015.

What is the code for Hunter's syndrome?

E76. 1 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes. The 2022 edition of ICD-10-CM E76. 1 became effective on October 1, 2021.

How do you Diagnose Hunter syndrome?

A doctor uses several tests to diagnose Hunter syndrome:Urine test: checks for unusually high levels of sugar molecules.Blood tests: can show low or absent levels of enzyme activity, which is also a sign of the disease.Genetic testing: identifies mutations (changes) in the gene to confirm diagnosis.

How to treat Hunter's syndrome?

Emerging treatmentsEnzyme therapy. This Food and Drug Administration-approved treatment uses man-made or genetically engineered enzymes to replace your child's missing or defective enzymes and ease the disease symptoms. ... Stem cell transplant. ... Gene therapy.

What type of mutation is Hunter syndrome?

Hunter syndrome (mucopolysaccharidosis type II) is a recessive X-linked disorder due to mutations in the iduronate 2-sulfatase (IDS) gene. The IDS gene encodes a lysosomal enzyme, iduronate 2-sulfatase. The disease occurs almost exclusively in males.

What is Hurler and Hunter syndrome?

Hunter syndrome (MPS II) is distinguished from Hurler syndrome by an X-linked recessive inheritance, longer survival, lack of corneal clouding, and the different biochemical defect with deficiency of the lysosomal enzyme iduronate-2-sulfatase. 139,140. As with Hurler syndrome, patients show coarse, straight scalp hair.

What causes Hunter's syndrome?

Family history. Hunter syndrome is caused by a defective chromosome, and a child must inherit the defective chromosome to develop the disease. Hunter syndrome is what's known as an X-linked recessive disease, which means that women carry the defective disease-causing X chromosome and can pass it on.

What kind of doctor treats Hunter syndrome?

Research is under way to find effective treatments for boys with severe Hunter syndrome. Treating the symptoms. Because so many different parts of your child's body can be affected, you'll probably need to see several doctors to help you manage the condition, including: Cardiologist: a heart specialist.

What causes Bow Hunter's syndrome?

The colloquial name refers to the rotational position of the head that a bowhunter assumes when properly aiming his bow. In adults, bowhunter's syndrome is most commonly caused by rotational compression of the dominant vertebral artery by a hypertrophic osteophyte, typically arising from the uncovertebral joints (1).

What is the best way to keep your airway open?

Breathing devices that use air pressure to keep the airway open — such as continuous positive airway pressure (CPAP) or bilevel positive airway pressure (BiPAP) devices — can help with upper airway obstructions and sleep apnea. Keeping your child's airway open can also help avoid low blood oxygen levels.

Why do people with Hunter syndrome have difficulty breathing?

Due to a narrow airway, people with Hunter syndrome often have difficulty receiving a breathing tube during general anesthesia. You may wish to note this on child care or school forms so that emergency personnel can be alerted to this fact, in case your child has an emergency and you're not there.

How to help a child with Hunter syndrome?

The sleep patterns of a child with Hunter syndrome can become more and more disorganized. Medications including sedatives and especially melatonin can improve sleep. Keeping a strict bedtime schedule and making sure your child sleeps in a well-darkened room also can help .

How to tell if something is not right with Hunter syndrome?

Changes in facial features are often the first noticeable sign that something's not right. Hunter syndrome progresses slowly and its signs and symptoms overlap with a number of other disorders, so a definitive diagnosis may take awhile. A urine sample can be checked for the deficient enzyme or for excess amounts of the complex sugar molecules ...

What is the procedure to get a child's blood cells to produce a defective enzyme?

Stem cell transplant. This procedure infuses healthy blood stem cells into your child's body with the hope that the new cells will create the missing or defective enzyme. However, treatment results have been mixed and more research is needed. Gene therapy.

What test can be used to determine if a child has a defective gene?

Prenatal testing . Prenatal testing of the fluid that surrounds the baby (amniocentesis) or of a tissue sample from the placenta (chorionic villus sampling) can verify if your unborn child carries a copy of the defective gene or is affected with the disorder.

Why do children need wheelchairs?

Your child may eventually need to use a wheelchair because of pain and limited stamina. Surgery can repair hernias, but because of weakness in connective tissues, results usually aren't ideal. The procedure often needs to be repeated.

When does Hunter syndrome start?

Signs and symptoms of both types of Hunter syndrome typically begin to appear in children between ages 2 and 4. Hunter syndrome symptoms vary in severity and include: Stiff joints. Thickening of facial features including nostrils, lips and tongue.

How many people have Hunter syndrome?

Hunter syndrome is almost always diagnosed in males. Doctors diagnose it in roughly 1 out of 100,000 to 170,000 male s. Females can be carriers of the genetic mutation that causes MPS II.

Why are boys at higher risk for Hunter syndrome?

People are at a higher risk for Hunter syndrome if they have a family member with the disease. Boys have a higher risk of inheriting the disease than girls do. This difference exists because the disease is linked to the X chromosome. Girls inherit 2 X chromosomes, while boys have only 1.

What are the complications of Hunter syndrome?

Depending on its severity, Hunter syndrome can involve many complications. Doctors use medications and sometimes surgery to manage these complications. They include: 1 Breathing problems due to thickened tissue and blocked airways 2 Heart disease 3 Joint and bone abnormalities 4 Declining brain function 5 Carpal tunnel syndrome 6 Hernias 7 Seizures 8 Behavioral problems

What tests are used to diagnose Hunter syndrome?

A doctor uses several tests to diagnose Hunter syndrome: Urine test: checks for unusually high levels of sugar molecules. Blood tests: can show low or absent levels of enzyme activity, which is also a sign of the disease. Genetic testing: identifies mutations (changes) in the gene to confirm diagnosis.

How long does Hunter's syndrome last?

No cure is available for Hunter syndrome. The most severe cases can be life-threatening, with life expectancy typically between 10 and 20 years. People with mild cases of the disease typically live longer into adulthood.

Can you prevent Hunter syndrome?

Because it is genetic, you cannot prevent Hunter syndrome. People who have a child with Hunter syndrome should talk to a genetic counselor before having another baby. This specialist can help parents understand the chances of passing the disease on to another child.

What is Hunter syndrome?

Hunter syndrome, or mucopolysaccharidosis type II ( MPS II ), is a rare genetic disorder in which large sugar molecules called glycosaminoglycans (or GAGs or mucopolysaccharides) build up in body tissues. It is a form of lysosomal storage disease.

How long do people with Hunter's syndrome live?

Many live into their 20s and 30s, but some may have near-normal life expectancies and may even have children. Cardiac and respiratory abnormalities are the usual cause of death for patients with milder forms of the disease. The symptoms of Hunter syndrome (MPS II) are generally not apparent at birth.

Is Hunter syndrome X linked?

Hunter syndrome is the only MPS syndrome to exhibit X-linked recessive inheritance. The symptoms of Hunter syndrome are comparable to those of MPS I. It causes abnormalities in many organs, including the skeleton, heart, and respiratory system. In severe cases, this leads to death during the teenaged years.

Is Hunter syndrome a phenotype?

Hunter syndrome may present with a wide variety of phenotypes. It has traditionally been categorized as either "mild" or "severe" depending on the presence of central nervous system symptoms, but this is an oversimplification. Patients with "attenuated" or "mild" forms of the disease may still suffer from significant health issues. For severely affected patients, the clinical course is relatively predictable; patients will normally die at an early age. For those with milder forms of the disease, a wider variety of outcomes exist. Many live into their 20s and 30s, but some may have near-normal life expectancies and may even have children. Cardiac and respiratory abnormalities are the usual cause of death for patients with milder forms of the disease.

What is Hunter syndrome?

Overview. Hunter syndrome is a very rare, inherited genetic disorder caused by a missing or malfunctioning enzyme. In Hunter syndrome, the body doesn't have enough of the enzyme iduronate 2-sulfatase. This enzyme's job is to break down certain complex molecules, and without enough of this enzyme, the molecules build up in harmful amounts.

What are the risk factors for Hunter syndrome?

There are two major risk factors for developing Hunter syndrome: Family history. Hunter syndrome is caused by a defective chromosome, and a child must inherit the defective chromosome to develop the disease.

How does Hunter syndrome develop?

Hunter syndrome develops when a defective chromosome is inherited from the child's mother. Because of that defective chromosome, an enzyme that's needed to break down complex sugar molecules is missing or malfunctioning. Without this enzyme, massive amounts of these complex sugar molecules collect in the cells, blood and connective tissues, ...

What is the name of the group of abnormalities typically seen in the bones of people with Hunter syndrome?

The group of abnormalities typically seen in the bones of people with Hunter syndrome is called dysostosis multiplex. Children with these abnormalities can develop irregularly shaped vertebrae and spines, ribs, arms, fingers, legs, and pelvises.

Is Hunter syndrome a genetic disorder?

Prevention. Hunter syndrome is a genetic disorder. Talk to your doctor or a genetic counselor if you're thinking about having children and you or any members of your family have a genetic disorder or a family history of genetic disorders. If you think you might be a carrier, genetic tests are available.

Can Hunter syndrome cause seizures?

As your child's overall physical functioning declines, these behavior problems tend to become less severe. Seizures also may occur in children with Hunter syndrome.

Is Hunter syndrome a common disease in boys?

Hunter syndrome is far more common in boys. The condition is one type of a group of inherited metabolic disorders called mucopolysaccharidoses (MPSs). Hunter syndrome is also known as MPS II. There's no cure for Hunter syndrome. Treatment involves managing symptoms and complications.