What is Hunter’s disease?

Boy discussing Hunter’s disease with his doctor

Hunter’s disease, also known as Hunter syndrome or MPS II, is an inherited disease that impacts the X chromosome. Though it is a rare condition, it is one that can significantly impact children and their families. Currently, there is no known cure for Hunter syndrome, but there are ways that care providers can help diagnosed individuals manage their symptoms.

What causes Hunter syndrome?

Hunter syndrome is caused when a child’s X chromosome lacks the essential enzyme iduronate sulfatase, which helps the body break down certain kinds of sugar. When this enzyme is missing, chains of sugar molecules build up in various body tissues and cause damage. The condition can either be early-onset, where severe symptoms begin shortly after age two, or late-onset, in which less severe symptoms appear later in life.

What are the signs of Hunter syndrome?

Both early-onset and late-onset Hunter syndrome cases include symptoms such as thickened facial features, progressive deafness, rapid hair growth, joint stiffness, and an enlarged head. In the event of early onset cases, symptoms can also include aggressive behavior, hyperactivity, worsening mental function, intellectual disabilities, and jerky bodily movements, while late-onset Hunter syndrome is generally not associated with mental symptoms.

Advice for Hunter syndrome caregivers

Though there is no known cure for Hunter syndrome, parents and caregivers do have treatment options available for their loved ones. Enzyme replacement therapy can often be used to slow the progression of the disease, while bone marrow and blood transplants may encourage a person’s body to manufacture the missing protein. Additionally, clinical trials can be an option for gaining access to potential new treatments that are not yet on the market. 

Because Hunter syndrome is a rare disease, it is often one that many people are not familiar with — and as such, treatment options can be limited. However, for those diagnosed with Hunter syndrome, clinical trials can be a way for individuals and their caregivers to take an active role in their treatment plans. To learn more about the studies that are currently underway, click the button below.