What is MPS?

What are MPS and Related Diseases?

The Canadian MPS Society Educational Video is a beautiful documentary that illustrates the world of MPS from many perspectives.

Mucopolysaccharide (pronounced “muke – o – polly – sack -are – ide”) (MPS) and related diseases are lysosomal (pronounced “lie – so – so – mall”) storage disorders (LSDs) caused by genetically inherited enzyme deficiencies. Because affected individuals lack particular enzymes necessary for normal cell degradation and recycling, substances store throughout their bodies, causing progressive damage to their hearts, bones, joints, respiratory systems and, sometimes, central nervous systems. Babies affected with MPS or related diseases often show no signs of disease; however, symptoms appear and intensify as storage increases.

There are thirteen types of MPS syndromes, each one caused by a distinct, inherited enzyme deficiency. Upon birth, a child with MPS appears normal and will seem to develop normally for the first year or more, depending on the type of MPS they have. The first signs can vary and are evident at different ages in affected children. Symptoms that usually prompt medical attention include frequent ear infections, runny noses, and colds. For more information about the signs and symptoms of MPS, visit our campaign website at www.jointhesearch.ca.

The mucopolysaccharide storage disorders are progressive and vary widely in severity. MPS children tend to have coarse facial features and all of them have, to some degree, skeletal involvement. For most children this involves joint changes with limitation of movement. Children often have clouding of the cornea, leading to vision impairment. In all of the MPS disorders, multiple organs are involved. Enlargement of the liver and spleen and involvement of the heart and blood vessels are frequent symptoms.

Other effects of MPS may include umbilical and groin hernias, stunted growth, fluid on the brain, thickened skin, excessive hair growth, chronic runny nose, and chronic ear infections causing hearing loss. Some children will experience progressive neurological decline, depending on the type of MPS they have. Projected life expectancy averages ten to twenty years.

What are the Major Characteristics of MPS?

A wide spectrum of clinical involvement is seen in all MPS and related diseases ranging from onset of symptoms at birth leading to death in early childhood to later onset with a near normal life span. While specific enzyme deficiencies, and effects, vary from syndrome to syndrome, characteristics are often shared by individuals with MPS including: course facial features, short stature, corneal clouding, speech and hearing impairment, chronic runny nose and diarrhea, hernias, heart disease, bone disease, stiff joints, liver and spleen enlargement, hyperactivity, mental retardation, and shortened life expectancy.