What is MPS?

 

..and how does Morquio B fit in?

MPS or Mucopolysaccharidoses is one of approximately 50 diseases that falls under the group of diseases called Lysosomal Disease. This is a family of rare and devastating genetic disorders that affects many people – mostly children – around the world. At least once every half an hour a child is born with Lysosomal Disease. There is no cure.*

Morquio Syndrome Type B or MPS IV B is one of the disorders that makes up the family of MPS Disease. There are approximately 13 disorders that fall under this condition. MPS affects everyone who has it in varying degrees. Children who are severely affected might not live past 2 years of age – others will live into adulthood.

The body is made up of two copies of every gene – one from the mother and one from the father. This is nature’s way of making sure that if one defective gene is inherited from one parent the other will take over and give us a healthy body. When two people who have one defective and one good copy of the same gene have a child together they have a 25% chance of together passing on both bad copies of that gene to their child. Because of this, the child will be born with a body that doesn’t form properly, and doesn’t function properly.

MPS is a ‘storage disease’. Our cells are designed to create an enzyme to break down unwanted substances in the body. If a person is born with MPS little or no enzymes are created and the cells can’t rid the body of these substances. These substances are then stored in the cells and over time will deteriorate the body. All medical problems which will develop during childhood will worsen over time.

The disease is not always detected at birth for various reasons depending on the type of MPS. Because the bones of a Morquio child are not formed correctly, as the child grows, the disease becomes more evident.

MPS can cause any or all of the following problems:

Dementia, deafness and/or blindness, short stature, carpal tunnel, thickening of the heart valves, tightening or loosening of muscles/ligaments, enlarging of the liver and spleen, movement disorders, and bones that grow abnormally as well as other problems that may arise as children grow.

Children with Morquio Syndrome thankfully don’t have any brain involvement that we know of but usually have more problems with their bones, tendons, and ligaments, as well as corneal clouding, deafness, and short stature. It is said that children affected with Morquio Syndrome type A usually have more severe symptoms than those affected with Morquio Sybdrome type B, but that is not always the case.

The greatest danger with Morquio Syndrome is that the bone that anchors the skull to the spine is sometimes shorter or non-existent, and has a ‘sloppy’ fit into the spine. As the disease progresses the waste material stores on the ligaments and tendons making them looser. This can, in time, allow the bones to slip. Any small trauma to the neck could easily cause children with Morquio Syndrome to become paralyzed or could cause death. Children with Morquio Syndrome usually have to have fusion surgery to repair this problem at a very young age. They may also have to have hip replacements, some spinal disc fusion, ankle replacement or fusion, and other major bone surgeries.