Mucopolysaccharide Disease

They May Be Small, But They Sure Are Strong

Small, But Strong!

About 25% of people are diagnosed with Mucopolysaccharidoses disease, also known as Morquio syndrome. Morquio syndrome is a condition where the body isn't able to break down chains of sugar carbohydrates, which are compounds of carbon, hydrogen and oxygen, and the body needs this to feed the cells. These long chains of sugar carbohydrates occur within the cells that help build bone, cartilage, tendons, corneas, skin and connective tissue. There are many different types of Morquio syndrome, for instance, there is type A, and type B. Type A, or IV A, is when people are born with it and it can't break down sugar carbohydrates because their bodies can't produce enough enzymes, or protein, which is called N-acetylgalactosamine-6 sulfatase (GALNS). Type B, or IV B, is an autosomal recessive disorder, which is characterized by skeletal dysplasia (different shape in legs, arms, etc.) and corneal clouding, (when they have blurry vision) which are some if the symptoms. IV B has no central nervous system (consists of your brain and your spinal cord). It was originally described as a milder form of the IV A, but following that showed to be the results of defects. Morquio syndrome was first discovered, in patience by Hunter and Hurler in the early 1900s. Then, in 1929, Luis Morquio of Montevideo, Uruguay and by JF Brailsford of Birmingham, England. They all had found symptoms in their patients. Luis Morquio and JF Brailsford experienced some of the symptoms, and it had been observed in 4 siblings of the family.

A Girl And Her Best Friend

Bella Burton, age 11, was diagnosed with Morquio syndrome,which is a rare genetic disease, meaning that it was passed into her genes, when she was just two years old. This disease affected her bones and her walking abilities. She had gone through multiple surgeries and therapy, but still couldn't walk by herself, and had to use crutches, wheelchairs, etc. Until one day, she met her best friend, George, her Great Dane. George is a service dog who was trained help people like Bella. She says "I had wheelchairs, Canadian crutches, walkers, regular crutches, and then we got George and I dropped my crutches and started I use him." Bella who is only 43 pounds, uses George, a 130 pound Great Dane, has a crutch, guider, and her best friend!

Signs & Symptoms

More than likely, you don't usually notice the symptoms until the child is able to start to walk.

Some signs of Morquio Syndrome can be:


  • Short height, with a very short torso, which is from your chest to your waist down.

  • Unusual bone and spine development

  • A bell-shaped chest and flared ribs at the bottom

  • Hypermobile joints

  • Knock-knees

  • Large head

  • Widely-spaced teeth

  • Possible heart and vision problems

  • Waddling

  • Short neck

  • Un-normal height for certain ages

  • A heart murmur

  • Sometimes they have broad mouths, which is a deformed mouth.

  • Dwarfism

  • Hearing loss

  • Flat feet

  • Small teeth

  • Loss of nerve function

  • Cloudy cornea of the eyes

  • A large liver

  • Deformed facial features

  • Any oddly shaped bones

There are many other symptoms of Morquio syndrome than the ones that have been listed up above.

Canadian Crutches vs. Regular Crutches

Crutches are for support to assist an injured, disabled, or handicapped person in walking. There are a few types of crutches, but I will only be talking about two types. Crutches are made for people of various heights. The first type is the Canadian crutch. This crutch is used for handicapped or disabled people. It is kind of a mixture of a cane and a walker. The Canadian crutch can also be called a forearm crutch. The forearm crutch is shorter than regular crutches, forearm crutches have cuffs that go around your wrists, this is for support and stability. Regular crutches, or underarm crutches, are mainly for injuries or surgeries. These crutches go underneath your armpits. Underarm crutches help you with stability because of not being able to put pressure on the leg.
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Bibliography

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