|Written by cdutcher|
|Thursday, 03 May 2012 19:03|
What Are MPS and Related Diseases?
Mucopolysaccharidoses (MPS) and related diseases are genetic lysosomal storage diseases (LSD) caused by the body’s inability to produce specific enzymes. Normally, the body uses enzymes to break down and recycle materials in cells. In individuals with MPS and related diseases, the missing or insufficient enzyme prevents the proper recycling process, resulting in the storage of materials in virtually every cell of the body. As a result, cells do not perform properly and may cause progressive damage throughout the body, including the heart, bones, joints, respiratory system and central nervous system. While the disease may not be apparent at birth, signs and symptoms develop with age as more cells become damaged by the accumulation of cell materials.
Syndrome Name Common Name Enzyme Deficiency
MPS I H Hurler a-L-Iduronidase
What are the Major Characteristics Of MPS and Related Diseases?
While the symptoms of the diseases may vary from one syndrome to another, there are similarities. Affected individuals may have mental retardation, cloudy corneas, short stature, stiff joints, incontinence, speech and hearing impairment, chronic runny nose, hernia, heart disease, hyperactivity, depression, pain and a dramatically shortened life span.
How Are These Diseases Inherited?
MPS and related diseases are hereditary. In nearly all cases a child receives a recessive gene from each parent. MPS II is the only exception where the gene may be passed from a mother to her male children. A couple’s chance of having another child with one of these diseases is 1 in 4 with each pregnancy. Unaffected siblings may be gene carriers of the disease. The occurrence of MPS and related diseases in the general population is thought to be one in 25,000 births.
Is Prenatal Diagnosis or Carrier Detection Testing Available?
For most MPS conditions, amniocentesis can be performed between 14 and 17 weeks gestation to determine if the unborn child is affected. Alternatively, chorionic villus sampling (CVS) can be performed between eight and ten weeks of pregnancy. Tests also are available to determine whether individuals are carriers of an MPS or related disease. To learn more about these tests contact your doctor, nearest genetic center or the National MPS Society.
Is Research Helping Today’s Families?
Although there is currently no cure for MPS or related diseases, research is making great strides. Carrier detection, the development of replacement enzymes, and the possibility of gene therapy, are among today’s research themes and treatment options. Bone marrow transplantation has been considered successful for many, though relatively few individuals qualify for this high-risk procedure. We’ve made major advancements in research thanks to the fundraising efforts of the Society and its members
|Last Updated on Thursday, 17 May 2012 18:35|