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Morquio Syndrome

What is Morquio Syndrome ?

When the substance needed to break down glycosaminoglycans, a kind of sugar molecule, are insufficient or completely absent, one is said to be afflicted by Morquio syndrome. Individuals with this disorder inherited the defective genes from both parents. Those affected by the condition suffer from certain kinds of bone problems like curved spine as well as uneven facial characteristics and a large head. Sufferers also have a short physique.

Treatment for Morquio Syndrome is designed individually and is aimed at resolving the issues and symptoms experienced by the patient. The disease is incurable, but treatment can help the patient live as normal a life as possible, especially since the cognitive ability is usually normal. Experts have been eyeing enzyme replacement therapy in treating the disease. Surgery might likewise be an option to avoid permanent injury to the spinal cord caused by undeveloped neck bones.

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Risk Factors for Morquio Syndrome

The disease is definitely not contagious as it is only inherited. Those who have relatives with the disease are at risk of suffering from this condition as well. It has been found to affect 1 out of 20,000 live births and symptoms start to appear during the first three years of life.

The disease was named in 1929 after a famous physician in Uruguay, Luis Morquio. He discovered the disease in Montevideo after observing it in 4 Swedish siblings. On the other hand, an English Radiographer named James Frederick Brailsford also described the disease in England. The disease has been known as Mucopolysaccharidosis IV and MPS IV.

Cause of Morquio Syndrome

The condition arises due to a deficiency in the substance that will break down keratin sulfate, a long chain of sugar molecules. It is often caused by a defective gene that disrupts the production of enzymes. When there is insufficient supply of these enzymes, large amounts of sugar molecules will gather in different parts of the body, including the brain and organs, hence causing damage. Both parents need to have the defective gene and passed it onto the child for the child to have the condition.

The disease is classified into two, and these are:

  • MPS IV-A

This form of MPS IV is a result of a deficiency in galactosamine-6-sulfatase enzyme.

  • MPS IV-B

MPS IV-B is milder compared to type A wherein the body does not produce sufficient amounts of beta-galactosidase enzyme.

Morquio Syndrome symptoms

Morquio Syndrome has varied effects on every patient. Affected individuals often look healthy upon birth, though the spinal deformity is already noticeable. Among the common manifestations of the disease include:

  • Dwarfism
  • Pronounced lower face
  • Knock knees
  • Large fingers
  • Flared ribs
  • Widely-spaced teeth
  • Compressed spinal cord
  • Bone problems
  • Weak legs
  • Hearing loss
  • Corneal clouding

Some die early while others live through adulthood. The disease does not impair the person’s cognitive ability and fertility. However, female sufferers may reach puberty later than usual and pregnancy might be prohibited for severely affected women due to the dangers it could bring. The disease should not be taken for granted as it may lead to serious complications like vision, hearing and breathing problems, obstructive sleep apnea, dental caries, walking problems, coronary heart disease and heart failure.

Diagnosis of Morquio Syndrome

The disease requires careful diagnosis and doctors conduct several tests to confirm the diagnosis and determine the effects and severity of the disease. Diagnosing this form of MPS disorder may involve the following:

  • Physical exam

This involves checking the physical manifestations of the disease such as abnormal spine curvature, flared ribs and short physique.

  • Diagnostic tests

The doctor will look for enlarged liver, nerve dysfunction under the neck, heart murmur, inguinal hernia and cloudy cornea. Among the diagnostic tests that will be required are urine test, blood test, genetic testing, X-rays, hearing test, echocardiogram and MRI.

The life expectancy of MPS patients is normal and the thinking ability is not affected. However, those who have severe the form of MPS IV-A have a poor prognosis and may die early due to serious complications. Timely and appropriate treatment and management helps in improving the patient’s chances of survival.

Treatment of Morquio Syndrome

The disease is incurable and so treatment is designed to alleviate the symptoms and prevent secondary complications from happening. Experts are still trying to find a cure and are studying to use gene therapy, enzyme replacement therapy or bone marrow transplant. Spine fusion might be an option to prevent causing permanent injury to the spinal cord. Other surgical procedures that might be performed are knee replacement, corrective knee operation, femoral osteotomies and hip replacement.

There is no way to prevent Morquio Syndrome from happening. And because the disease run in families, it would be best for parents to undergo genetic counseling to learn not only their chances of having a child with the condition, but also to be better acquainted with the disorder including the available treatment options.

Morquio Syndrome Pictures



 

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