Morquio's Syndrome is a rare genetic disease in which spinal growth is impeded when the child is still developing, usually between 3 and 8 years old. This disease has no treatment and affects, on average, 1 in 700 thousand people, with impairment of the entire skeleton and interfering with mobility.
The main characteristic of this disease is the change in the growth of the entire skeleton, especially the spine, while the rest of the body and organs maintain normal growth and therefore the disease is aggravated by compressing the organs, causing pain and limiting much of the movements.
Signs and symptoms of Morquio Syndrome
The symptoms of Morquio's Syndrome begin to manifest themselves during the first year of life, evolving over time. Symptoms can manifest themselves in the following order:
- Initially, the person with this syndrome is constantly ill; during the first year of life, there is an intense and unjustified weight loss; Over the months, difficulty and pain develop when walking or moving; The joints begin to stiffen; a gradual weakening of the feet and ankles; there is a dislocation of the hip in order to prevent walking, making the person with this syndrome very dependent on the wheelchair.
In addition to these symptoms, it is possible that people with Morquio's Syndrome have an enlarged liver, decreased hearing capacity, cardiac and visual changes, as well as physical characteristics, such as a short neck, large mouth, space between teeth and a short nose, for example..
The diagnosis of Morquio's Syndrome is made through the evaluation of the symptoms presented, genetic analysis and verification of the activity of an enzyme that is normally reduced in this disease.
How the treatment is done
The treatment for Morquio's Syndrome aims to improve mobility and respiratory capacity, with bone surgery on the chest and spine usually recommended.
People with Morquio Syndrome have a very limited life expectancy, but what kills in these cases is the compression of the organs like the lung causing severe respiratory failure. Patients with this syndrome can die at the age of three, but they can live more than thirty.
What causes Morquio Syndrome
For a child to develop the disease, it is necessary that both the father and the mother have the Morquio Syndrome gene, because if only one parent has the gene it does not determine the disease. If the father and mother have the gene for Morquio's Syndrome there is a 40% probability of having a child with the syndrome.
Therefore, it is important that in case of family history of the Syndrome or in case of consanguineous marriage, for example, genetic counseling is made to check the child's chances of having the Syndrome. Understand how genetic counseling is done.
