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Achondroplasia

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by

Claire Chial

on 29 January 2013

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Transcript of Achondroplasia

What is Achondroplasia? Achondroplasia It is a bone growth deformation that causes longer limbs on a person to be shorter, especially your arms and legs. Why does this happen? When ossification of cartilage is disrupted. Ossification is how cartilage is converted into bone. Other effects of Achondroplasia... obesity
recurrent ear infections
a permanent sway of back
an enlarged forehead
large head in comparison to body
small face in comparison to head
limited range of motion from elbow
bowed legs
decreased muscle tone
middle and ring finger are more spaced out from the other fingers How do you get this mutation? It is either inherited or a spontaneous mutation.
Yet you can still get achondroplasia even if neither of the parents have it which would result in a spontaneous mutation. Approximately 20-50% of all children with achondroplasia will experience a neurological impairment. This is when parts of the nervous system are damaged, this occurs from the abnormal growth for people with this mutation. numbness
difficulty walking
loss of bladder control
difficulty breathing Achondroplasia does not affect a persons torso By Mckeely Malas, Rico Robinson, Spencer Clark, and Claire Chial Unfortunately, these symptoms are more difficult to treat for a person with Achondroplasia. Achondroplasia itself can be treated by using somatotropin recombinant human growth hormone. The hormone simulates tissue growth, height, protein, carbohydrate, lipid, and mineral metabolism. This should be recommended by a doctor and can be very dangerous if not used appropriately. This treatment can increase the risk of death and should be carefully considered by the patient. Many forms of drug treatment can be accessed at your local drug store. Somatotropin is something you need a prescription for and you can get it at your local pharmacy or in the mail. Persistent breathing problems may be the result if defects in the heart and lungs.
If a child has difficulty walking they may require specialized treatment, for it may be in result of the sway of the back or scoliosis. The sway of the back can be reduced with a back brace. For receiving treatment for them you can consult your local doctor who will probably refer you to a chiropractor. Are there any treatments? Average Age and Height The average height of an adult male with achondroplasia is 4 feet, 4 inches, and the average height for adult females is 4 feet, 1 inch.
People with achondroplasia have a normal life expectancy. How Would YOU Feel? Having a child that is not achondroplastic... Socially if people cant except my child I believe that they cannot respect my family. No matter what happens I stand for my family and others like ours alone. My aspiration
if my child does not have the form of achondroplasia, he or she would stand up for our family if in the same situation. If my child was achondroplastic.... If we have a child like my wife and I then will they be teased at school and only feel sheltered at home. It is also possible that the baby could die from a miscarriage as a result of our achondroplasia. I have to consider all my options and judgment that comes every step of the way. Socially if people cant except my child I believe that they cannot
respect my family. I have to consider all my options and judgment that comes
every step of the way. Scenario You and your wife both have achondroplasia. You are considering having a child. You would also like to visit a genetic counselor. Your income is $150,000 , and HMO is covered 90%
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