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Maroteaux Lamy syndrome is a rare genetic metabolic disorder that is named after the French doctors who first described the condition. Some of the most common symptoms associated with Maroteaux Lamy syndrome include delayed growth, joint stiffness, and bone abnormalities. Heart disease and the presence of hernias are also common among those with this disorder. Although there is no cure for this medical condition, enzyme replacement therapy can be useful in helping to manage the illness. Any individualized questions or concerns about Maroteaux Lamy syndrome should be discussed with a doctor or other medical professional.
This condition is caused by a recessive gene, meaning that both parents must be a carrier for the gene that is responsible for Maroteaux Lamy syndrome. It is possible to be a carrier for the defective gene without actually having the condition itself. A child born to parents who both carry this defective gene has a one in four chance of developing the condition.
The symptoms of Maroteaux Lamy syndrome are all physical in nature, as intellect is not typically affected. One of the first signs that something is not quite normal is a delayed ability learning to walk. Additional tests may reveal restricted joint movement and abnormalities involving the shape of some bones, particularly those of the spine. In the more severe cases, the abdomen may protrude significantly.
Many people with Maroteaux Lamy syndrome are diagnosed at some point with a hernia, or a protrusion of part of the intestine through the abdominal wall. Surgery is typically needed to repair the hernia in order to prevent potentially life-threatening complications. Heart disease or other cardiac issues are extremely common, as the majority of those who are diagnosed with this condition will develop some form of heart malfunction, usually involving at least one defective heart valve. Surgical intervention may be needed in order to repair damage to the heart, although this method of treatment is usually delayed as much as possible due to the risks associated with heart surgery,
There is no cure for Maroteaux Lamy syndrome, and treatment is aimed at easing specific symptoms. Potentially serious problems such as heart issues or the development of hernias usually requires surgical intervention. Supportive devices such as braces, crutches, or wheelchairs may be used in an effort to increase mobility and independence. Other symptoms are treated on an as-needed basis, making clear and frequent communication with the supervising physician very important.