Hunter syndrome, also known as mucopolysaccharidosis type II or MPS II, is a rare genetic disease most common in men characterized by enzyme deficiency, iduronate-2-sulfatase, important for the proper functioning of the body.
Due to the decrease in the activity of this enzyme, a accumulation of substances occurs inside the cells, resulting in severe symptoms and progressive evolution, such as joint stiffness, heart and respiratory alterations, skin lesions and neurological alterations, for example.
- The symptoms of Hunter syndrome.
- The speed of progression of the disease and the severity vary from person to person.
- The main characteristics of the disease being:.
In more severe cases, there may also be heart changes, with decreased heart function and respiratory changes, that can cause airway obstruction and increase the risk of air infections, which can be serious.
Because symptoms appear and evolve differently in patients with the disease, life expectancy is also variable, with an increased risk of death between the first and second decades of life when symptoms are more severe.
Hunter syndrome is diagnosed by the geneticist or GP based on the person’s symptomatology and the result of specific tests, it is important that the diagnosis is not based solely on clinical manifestations, as the characteristics are very similar to those of other mucopolysaccharidosis, and it is important that the doctor prescribes more specific tests.Learn more about mucopolysaccharidosis and how to identify it.
Therefore, it is important to measure glucosaminoglycans in urine and, mainly, evaluate the activity levels of the enzyme iduronate-2-sulfatase in fibroblasts and plasma.In addition, other tests are generally recommended to check the severity of symptoms, such as ultrasound., respiratory capacity tests, audiometry, neurological tests, eye examination and skull and spine resonance, for example.
Treatment for Hunter syndrome varies depending on people’s characteristics, but your doctor generally recommends enzymatic replacement to prevent disease progression and complications.
In addition, the doctor recommends specific treatment of the symptoms presented as well as occupational therapy and physiotherapy to stimulate the patient’s speech and movements with the syndrome to prevent, for example, motor and speech disorders.