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Morquio Syndrome

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xavi :}

on 1 July 2013

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Transcript of Morquio Syndrome

Morquio
syndrome

History
Morquio Syndrome was first described by Luis Morquio (1867-1935) and Frederick Brailsford (1888-1961)) in 1929. Sadly, Luis got most of the recognition and it was named after him and Frederick's part was almost forgotten.

About The Syndrome
This Sydrome is a very rare type of dwarfism that is caused by an enzyme deficiency, because of this you can't break down long chains of sugars so they build up in the body causing damage to the organs and brain as they cannot be eliminated.
The Symptoms

-abnormal heart and skeletal development
-large fingers
-dwarfism
-below height for your age
-likely short lifespan
-flat vertebrate and flared rib
-short stature and neck
-large unstable knees and large wrists and flat feet
-gradual loss of walking ability

people with Morquio Syndrome often appear healthy at birth
People's Stories
Bella's Story
Coralie's Story
So far, sadly no cure for Morquio Syndrome has been discovered but if the Syndrome is discovered early doctors can help minimize the effects and can attempt to stop it. People with the syndrome will probably die at a young age. A similar disease is Hunter Syndrome.
There are two types of Morquio Syndrome- A and B. The difference between the two is that you are missing a different type of enzyme.
http://mbc.sandi.net/library/items/bella-s-story-a-child-living-with-morquio-syndrome---2640369?vb95f8e70-d7aa-012f-1f7a-5af954079c86

"Michael and Andrew have Morquio Syndrome, which affects all parts of the body, most significantly the bones.

My name is Coralie and in October 2010, my son Michael woke up one morning paralyzed from the neck down. He had hit his head hard on the floor the night before, after having a tantrum, and we just thought he was overly tired, so we put him to bed unknowingly.

The following week, he underwent lifesaving surgery to take away part of his spine, and he began to walk and recovered his movement in his limbs. We later discovered that Michael and his twin brother Andrew have a rare genetic disease called MPS IV – Morquio Syndrome. Morquio syndrome is an inherited disease of metabolism in which the body is missing or doesn’t have enough of a substance needed to break down long chains of sugar molecules called glycosaminoglycans. MPS IV belongs to a group of diseases called mucopolysaccharidoses (MPS).

Morquio Syndrome affects all parts of the body, most significantly the bones. The twins have undergone fusions in the neck and have worn body casts for over 4 months. As this disease slowly robs them of the life I once dreamed for them, it also changes us into more determined people."

Submitted by: Coralie Mitchell

Location: Leeming, Australia, WA



Thank you for listening

by Xavi Bryans
bibliography
http://globalgenes.org/twins-with-morquio-syndrome-mps-iv-undergo-neck-fusions-and-body-casting-but-have-hope/
https://en.wikipedia.org/wiki/Morquio_syndrome
http://www.wisegeek.com/what-is-morquio-syndrome.htm
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1793309/
Full transcript