About MPS2

Clinically speaking, Hunter syndrome is inherited as an X-linked recessive disorder. History shows that the effects of this disease take a devastating toll on the child’s developmental and cognitive ability to live a fruitful, healthy life. Sadly enough, children diagnosed with most severe cases of Hunter’s syndrome, represent more than two thirds of all reported cases.

The onsets of Hunter’s symptoms are usually seen between 2 and 4 years of age. It is difficult to detect MPS2, because most symptoms are that of common childhood sicknesses.  Most diagnoses come from the signs of developmental delay as children begin school.  Unfortunately it is the extensive rapid neurological degeneration that precedes and ultimately causes death in children with the severe form of Hunter syndrome.

Children with severe Hunter’s syndrome have multiple unexplained health issues. These include short stature, skeletal deformities, spine deterioration, joint stiffness, coarse/puffy facial features, developmental delays, mental retardation, unexpected seizures,  premature brain failure, respiratory system problems, heart disease, carpal tunnel syndrome, the inability to walk, and  recognize their surroundings usually before the age of 12, and loss of life by 15.

MPS2 also has a tendency to attack and enlarge the internal organs, mainly the liver and spleen which can interfere with eating and breathing.

Potty training is a neurological function affected by MPS2/ Hunters, so training is almost impossible.  As a consequence of the nervous system failure some boys experience loose stool or chronic diarrhea.  The inability to be trained is embarrassing, for the boys, frustrating, for both child and parents, and extremely costly.

Boys trying to cope with the issues of stomach extension usually have a hard time wearing proper fitting clothes.  It becomes increasingly difficult to find elastic waist pants as children grow out of the toddler stage.  Most articles of clothing need to be altered.

The continued storage of GAG in cells can lead to organs being affected in important ways.

• The thickening of the heart valves along with the walls of the heart can result in progressive decline in cardiac function.
• The walls of the airway may become thickened as well, leading to breathing problems while sleeping (obstructive airway disease). People with Hunter syndrome may also have limited lung capacity due to pulmonary involvement.
•  As the liver and spleen grow larger with time, the belly may become distended, making hernias more noticeable.
• All major joints (including the wrists, elbows, shoulders, hips, and knees) may be affected by Hunter syndrome, leading to joint stiffness and limited motion.  Progressive involvement of the finger and thumb joints results in decreased ability to pick up small objects. The effects on other joints, such as hips and knees, can make it increasingly difficult to walk normally.
• If carpal tunnel syndrome develops, a further decrease in hand function can occur. The bones themselves may be affected, resulting in short stature.
•  In addition, pebbly, ivory-colored skin lesions may be found on the upper arms and legs and upper back of some people with Hunter syndrome. The presence or absence of the skin lesions is not helpful, however, in predicting clinical severity in Hunter syndrome.
• Finally, the storage of GAG in the brain can lead to delayed development with subsequent mental retardation.

Sadly enough … the devastating effects of the disease will take control over their little lives which usually result in their passing between 10 and 15 years of age.

Treating MPS2