Achondroplasia

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Achondroplasia

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deniz

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English: I saw Jason Acuña outside of the Wate...

English: I saw Jason Acuña outside of the Waterfront Mariott in Portland, OR. on August 15, 2009. I asked if my sister and I could take a picture with him and he agreed. I asked him why he was in Portland and I believe he said that he was there filming for a TV show. (Photo credit: Wikipedia)

I would like to tell you about Achondroplasia.  It is commonly known as dwarfism. This essay will tell you about achondroplasia, what kind of problems people have with this condition, what types of things are available to help them live independently.

Achondroplasia is a form of short limbed dwarfism. The word achondroplasia literally means “without cartilage formation”. Cartilage is a tough but flexible tissue that makes up much of the skeleton. During the first trimester the problem is that some of the cartilage does not form into bones.  This is called ossification.  This happens mostly in the long bones of the arms and legs.

All people with achondroplasia are very short. The average height of an adult male with achondroplasia is 131 centimeter (4 feet and 4 inches).  The average of an adult female is 124 centimeters (4 feet and 1 inches).  These peoplehave a regular size head and chest, but the arms and legs are shorter than normal.  It can be difficult to move the elbow and sometimes they have an enlarged head (macrocephaly).  The fingers are wider.   The good thing is that people with achondroplasia are generally of normal intelligence.

Secondly, achondroplasia causes many problems. It is also difficult to walk because of their hips size and joints. Health problems include trouble breathing.  At times, the breathing becomes slow or stops for short  period.  This is called apnea. They  often become fat and heavy.  Achondroplasia patients also get lots of ear infections.

In childhood, they walk from side to side, moving their whole body, not just their legs.  The legs are also bowed. Their life is complicated because they are not tall.  They have to find ways to solve their problems such as breathing issues, walking and their height. They can have problems with painful tingling in their arms and legs.  They have weakness in the their legs that can cause difficulty with walking.

What are some solutions that can help people with this disease?  Since they are not that tall they can use a pole to turn on or off the lights.  They can also use a step ladder which is a chair that has steps. To drive they put little poles that attach to the brake and gas pedals.  Most people with this condition can live a full life, getting married, and have children.

Works Cited

Editors. “Your Guide to Understanding Genetic Conditions.” Achondroplasia. Genetic Home Reference. http://ghr.nlm.nih.gov/condition/achondroplasia.

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