Morquios Syndrome

I have Morquios Syndrome, i was diagnosed at about 6 months old so i guess i have always known about it. It makes me small and my ligaments are very lax. I wear bilateral hearing aids.

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Morquio syndrome (referred to as mucopolysaccharidosis IV or Morquio) is a mucopolysaccharide storage disease (see also lysosomal storage disorder), usually inherited. It is a relatively rare dwarfism with serious consequences.

When the body cannot process certain types of mucopolysaccharides, they build up or are eliminated, causing various symptoms.

Types:

Two forms are recognized, type A and type B.

Type A is a deficiency of the enzyme N-acetylgalactosamine-6-sulfate sulfatase.
Type B is the deficiency of the enzyme beta-galactosidase.

Presentation:

The disease is caused by an abnormal accumulation of mucopolysaccharides - in this case, keratan sulfate - in the body. Keratan sulfate is excreted in urine.

The symptoms vary from patient to patient, and may include hearing loss, cataracts, skeletal dysplasia, spinal instability, and minor respiratory issues, among others.

History:

The condition was first described, simultaneously and independently, in 1929, by Luis Morquio in Montevideo, Uruguay, and by James Frederick Brailsford in Birmingham, England. They both recognized the occurrence of corneal clouding, aortic valve disease, and urinary excretion of keratan sulfate. Morquio observed the disorder in 4 siblings in a family of Swedish extraction and reported his observations in French.

en.wikipedia.org/wiki/Morquio_syndrome

www.mpssociety.org

Hi. I to have Morquio's. I was diagnosed at the age of 6 or 7, and at that stage I needed spinal fusion, this first operation wasn't successful and another few years later when the docs knew I wasnt going to grow any taller, another operation was done, and this was very successful, on the odd occasion I would get a sore back, but usually my spine is ok and i dont really have pain with it. My understanding is that I have a mild form of Morquios, im 4ft 7ins and for having Morquios is very tall. My brother also has the condition, he is worse than me. I can walk unadded, but I would usualy have a person with me so there right arm always comes in handy to hold onto. So far ive had both hips totally replaced. My knees and ankles are the biggest thing that need looked at, and hopefully with in the next few weeks/months I will get them sorted out soon. Its good that another person here has Morquios, I know we are both differnt but we have the same thing, im just slighty on a biger scale. My elbows keep popping out of place, when this happens my elbows actually look broken, doc says its discolating, usually it goes back into place itself, but the odd time I have to push it in myself.

I was at the doctors yesterday he told me nothing that I didnt know before i went. My left knee will have to be replaced prob within the next year. My main concern is my right ankle. I dont know what they will be doing either replace my ankle or fuse it. One of the either. I do want it fixed ASAP as an operation for me is the only cure,so to speak, well at least until something else needs fixed. dont think Im doing to bad do you's, knees and ankles, what next !!!! already had both hips and spine fixed, endless these operations in my life, but its either that or not a very happy existance. just thought Id say;