10 Interesting Facts about Morquio syndrome
Morquio syndrome fact is information about people with Morquio syndrome. Morquio is an autosomal recessive mucopolysaccharide storage diseases (see also lysosomal storage disorder), usually inherited. Morquio is a congenital defect since a person was born. When the body is not able to process some types of mucopolysaccharides, they build or eliminated, causing various symptoms. Here are 10 interesting Morquio syndrome facts.
1. Morquio syndrome fact
The condition was first described, simultaneously and independently, in 1929, by Luis Morquio in Montevideo, Uruguay, and James Frederick Brailsford in Birmingham, England.
2. Morquio syndrome fact
Morqui syndrome is usually only known after the child has been running.
3. Morquio syndrome fact
Since this is a disorder decreases, genetic counseling is recommended for parents who have a family history Morqui Syndrome. Enzyme replacement therapy is still under investigation for effectiveness. Until now, there is still no specific treatment to address Morque Syndrome.
4. Morquio syndrome fact
In Morquio syndrome mortality and morbidity, especially associated with atlantoaxial instability and subsequent cervical myelopathy. Decrease in minor or extension of the neck can cause the cord transection and subsequent quadriparesis or death.
5. Morquio syndrome fact
Morquio passed on only if both parents have the defective gene. Morquio syndrome can develop in two forms of Type A and Type B. Type A does not have the enzyme-(it is the substance) galactosamine-6-sulfatase and Type B’s do not breed enough-beta-galactosidase enzyme.
6. Morquio syndrome fact
The symptoms of Morquio syndrome usually are knock-knees, his head is too big, too spaced teeth, short stature, funny-shaped chest, abnormal development of the spine and bones, coarse facial features, joint hyper mobile, etc.
7. Morquio syndrome fact
Testing for Morquio syndrome may reveal dysfunction which includes an enlarged liver, inguinal hernia, kyphoscoliosis, cardiac murmurs, cloudy cornea, loss of nerve and short trunk. And with Morquio syndrome urine tests can reveal mucopolysaccharides too much, but cannot reveal the form of MPS.
8. Morquio syndrome fact
There is appropriate treatment for Morquio syndrome who present with symptoms. Morquio syndrome is the treatment of spinal fusion (for irreversible spinal cord injury), the prognosis is correct, the potential surgery for potential bone damage, heart problems consultation, and joining a support group.
9. Morquio syndrome fact
Morquio observed disorder in 4 siblings in a family of Swedish extraction and observation reports in France.
10. Morquio syndrome fact
Children also need to understand the facts about Morquio syndrome. Another name for the same syndrome galactosamine-6-sulfatase deficiency, MPS IV. This is interesting Morquio syndrome fact.