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Hunter Syndrome (MPS II)

What Is Hunter Syndrome (MPS II)?

Hunter syndrome, also called mucopolysaccharidosis II or MPS II, is a rare disease that's passed on in families. It usually affects only boys. Their bodies can't break down a kind of sugar that builds bones, skin, tendons, and other tissue. Those sugars build up in their cells and damage many parts of the body, including the brain. Exactly what happens is different for every person.

When your son has Hunter syndrome, there are things you can do to help him play, have friends, and do some of the things that other kids do, even though he may look different from his pals.

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Although there is no cure for Hunter syndrome, there are ways to help manage it and live with the symptoms.

Causes

Boys with the disease can't make a certain protein because there's a problem with a small piece of their DNA, called a gene, that comes from their mother.

A dad with Hunter syndrome will pass the problem gene to his daughter, but she won't get the disease unless she gets the gene from her mom, too.

It's possible -- but very, very unlikely -- that someone could develop Hunter syndrome even though no one in their family going back has had it.

Symptoms

When Hunter syndrome affects the brain, which is about 75% of the time, symptoms usually show up between 18 months and 4 years of age. They start about 2 years later when the disease is milder.

Hunter syndrome usually affects how the boy looks:

  • Large, round cheeks
  • Broad nose
  • Thick lips and a large tongue
  • Bushy eyebrows
  • Large head
  • Slowed growth
  • Thick, tough skin
  • Short, broad hands with stiff, curled fingers

He'll probably have these symptoms:

  • Joint problems that make it hard to move
  • Numbness, weakness, and tingling in his hands
  • A lot of coughs, colds, and sinus and throat infections
  • Breathing problems, including pauses in breathing at night, or sleep apnea
  • Hearing loss and ear infections
  • Trouble walking and weak muscles
  • Bowel problems, such as diarrhea
  • Heart problems, including damaged heart valves
  • Enlarged liver and spleen
  • Bone thickening

When a boy's brain is affected, it's likely he'll have:

  • Trouble thinking and learning by the time he is 2 to 4 years old
  • Trouble talking
  • Behavior problems such as a hard time sitting still or aggression

Kids who have Hunter syndrome are usually cheerful and affectionate, despite the problems it can cause.

Getting a Diagnosis

Doctors often have to rule out other medical conditions first. Your doctor may ask:

  • What symptoms have you noticed?
  • When did you first see them?
  • Do they come and go?
  • Does anything make them better? Or worse?
  • Has anyone in your family had Hunter syndrome or another genetic disease?

WebMD Medical Reference

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