Mórquio Syndrome is a rare, serious and incurable genetic disease that prevents spinal growth when the child is still 3, 6 or 8 years old. The untreated disease occurs on average in one in 700, 000 people and affects the entire skeleton, impairing mobility.
The main feature of this disease is that it impairs the growth of the whole skeleton especially the spine while the rest of the body and organs maintains normal growth and therefore the disease worsens compressing the organs, causing pain and limiting much of the movements.
Signs and Symptoms of Mórquio Syndrome
The symptoms of the Syndrome of Mórquio, begin to appear soon during the first year of life, evolving with the passage of time. Symptoms may manifest in the following order:
- Initially the patient of this syndrome is constantly sick;
- During the first year of life there is an intense and unjustified weight loss;
- With the passing of the months, difficulty and pain are installed when walking or moving;
- The joints begin to stiffen;
- A gradual weakening of the feet and ankles develops;
- There is a displacement of the hip in order to prevent walking, making the sufferer of this syndrome very dependent on the wheelchair.
The diagnosis of the syndrome of the mórquio is made through a genetic analysis to the blood to look for and to identify the gene of Mórquio.
Treatment for Mórquio Syndrome
The treatment for these patients is bone surgery in the thorax and spine to allow better mobility and breathing.
People with Mórquio syndrome have a very limited life expectancy, but what kills in these cases is the compression of the organs like lung causing severe respiratory insufficiency. Patients with this syndrome may die by age three, but may live more than thirty.
What causes Mórquio Syndrome
For a child to develop the disease it is necessary that both the father and the mother have the gene of the Mórquio Syndrome, because if only one of the progenitors own the gene does not determine the disease. If the father and mother have the gene for Mórquio Syndrome there is a 40% probability of having a child with the syndrome.
