What is Morquio syndrome?
Morquio syndrome in its simplest form is a rare form of defect discovered at birth which has serious consequences. It is a condition which is passed down through the genes, from parent to child to grandchild. The condition which is actually categorized as a disease, it means that there are not the right substances in the body to aid the breakdown of the ropes or chains of sugar in your body.
There is usually a gradual climb in the amount of enzymes in the body which are known to direct toward what is known as mucopolysaccharides. You will know that there are external signs of this condition also such as a deformed skeleton, a skeletal difference to other children and adults.
This can occur anywhere on the body from:-
- The face
- The Body
- The legs
- The hands
- The feet
It is normal for persons who have this condition to go on and live a relatively normal life and enjoy a normal sense of intelligence. Morquio sufferers do not have a lower intelligence than other people and no mental disabilities. However, there may be some physical disabilities that a sufferer would have to contend with:-
- Growth delay – children with this condition won’t grow as well as able bodied persons.
- Lower face appears to protrude more than the faces of persons who do not suffer the condition. This can lead to the head looking large or out of proportion in comparison to the sufferer’s body.
- Sufferer’s neck appears to be much shorter than that of non Morquio counterparts.
- Knock knees – Knees are much closer together than people who don’t suffer from the condition.
- Flat feet – feet are flattened by the lack of an adequate arch of the foot.
- Scoliosis of the spine – This can be any which way, in an S shape, making the sufferer lean forward or backward or making the sufferer twist round causing discomfort.
- The ends of the long bones will suffer from developmental delay; there will be a deficiency in their development.
- Cloudiness of the cornea in the eye, similar to that of cataracts.
- Pigeon chest – This is basically a chest where the breast bone sticks out more than persons of non Morquio. The chest will appear to fan out near the base of the rib cage.
- Hearing can be affected, but this is not a definite. The sufferer maybe affected enough to warrant the need of a hearing aid.
- Weakness in the legs making walking long distances hard work.
- Ones fingers maybe larger than the average person, this can make it painful for children who have the condition to hold simple things such as a pencil.
- Heart muscles which may at first appear larger than the average heart.
- There may be other problems and disabilities which are not listed here. But with research there is enough information available on the condition to help you with your search to finding out about anything I may have missed.
What are the causes of Morquio syndrome?
As I mentioned above, this condition is inherited, it is passed down through the genes.
The condition was discovered and given a name in 1929, by a gentleman called Luis Morquio, after studying a family of six, where the four children all had the condition.
However, do not panic if you are a Morquio sufferer and have a baby with your wife or husband. There is an exception to the rule; the Morquio gene will only be passed down through the genes if both partners have the conditions gene.
If only the mother has the gene then it is very unlikely that the condition will be passed on. The father has to have the gene as well as the mother, and then, and only when the two genes unite, this is when the condition is passed on to the next generation. The child will not be diagnosed until sometime between 1 and 3 years of age.
Types of Morquio syndrome
There are two types of Morquio syndrome, there is the type labeled as type A and there is the type labeled simply type B. As mentioned above, both parents must have the genes of one or the other of the types to pass on the condition.
If one parent has type a gene and the other parent has type b gene then the gene will not be passed on. It has been estimated that only one baby in every 200,000 babies is born with this condition. That is amazingly few, so do not worry about the gene passing on, the chance of you passing on the gene are extremely slim. Of course, if someone in the family has this condition then the risk is higher, but still very slim.
How is this condition treated in current times?
With this condition there does not appear to be that much in the way of treatment other than diagnosis or detection prior to the birth of the baby and enzyme replacement therapy. This is self-explanatory; however, enzyme replacement therapy basically consists of a replacement of enzymes. The treatment is normally performed through the medium of an intravenous drip rather than tablets or liquid medication.
Some children in recent years have started to have their backs and necks, which is called cervical fusion of the spine. It results in the children suffering this condition to have a halo fitted while their back is under treatment. This can take anything up to six months to complete and will have regular MRI scans when the halo is removed; this is to keep an eye on how the spine is coping with the condition as the child grows.
Some children will suffer from a narrowing of the spine which will have an adverse effect on the nerves. Also there can be a lot of pain associated with the legs and knees due to the deformity of the bones. This will make it that walking can be difficult, you may find that your child would be better off when they use a wheelchair. It offers a little bit of relief when you are out and about.