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Achondroplasia Boulder Valley School District

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Achondroplasia Boulder Valley School District PowerPoint Presentation

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Published on : Jan 08, 2015
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Slide 1 - Achondroplasia Presented by: Britt Shields and Connor Nash
Slide 2 - Overview Achondroplasia is the common cause of dwarfism Approximately 1 in every 25,000 have this disorder The average height of a person with Achondroplasia is beween 4 feet and 4 feet 4 inches
Slide 3 - Medical Research Achondroplasia is autosomal (sex cell) dominant. It is a result of an abnormality in the fibroblast growth factor receptor gene 3. Most people with Achondroplasia don’t have parents with the disorder. This is because of a new mutation. To have Achondroplasia the person has to be heterozygous because a homozygous genotype is fatal. If a person has the disease they are heterozygous. People can get the disease from their parents or from a new muation.
Slide 4 - Heterozygous vs. Heterozygous A a A a a a 25% chance of death, 50% chance of Achondroplasia, 25% chance of normalcy
Slide 5 - Homo vs. Heterozygous a a A a 50% chance of Achondroplasia, 50% chance of normalcy
Slide 6 - Diagnosis and Symptoms Before birth: prenatal ultrasound, DNA testing Post-Birth: If child shows hypotonia, delayed walking, obesity, abnormal skull structure or middle ear infections. Physical symptoms: In addition to what is listed above: shortness. Life Span: Usually normal for heterozygous. Homozygous results in death. Average life span may be 10 years less than normal.
Slide 7 - Treatment Currently there is no treatment. Human growth hormone does not work. Currently some limb-lengthening treatments have been started. They show promise for lengthening the limbs but some cases limbs become locked to their torso.
Slide 8 - Everyday Life The average height for an adult with achondroplasia is about 4 feet. Considering this, those with the condition require custom made tools to make every day tasks easier. Examples are stairs and steps to reach sinks, cabinets, & drawers. Those with the disorder tend to have crowded teeth due to an irregular skull, making oral hygiene difficult. The irregular skull structure also leaves those with achondroplasia prone to inner ear infections due to fluid drainage. Also, due to the short stature of carriers, obesity is prevalent. Because obesity occurs often and there is a lack of muscle tone, it is very important for them to exercise frequently
Slide 9 - Limitations Due to the short stature of those with achondrioplasia, there are obvious limitations. Slow motor movements are one of the indicators. Of course, there are limits in what they can reach on shelves or counters. There are also driving limitations, however these can easily be solved by increasing the length of the pedals Also, since the leg bones typically become bowed, there is a limit on athletic activities that can be done.
Slide 10 - Helpful Organizations http://www.lprf.org – The Little People’s Research Fund http://www.lpaonline.org – Little People of America http://www.restrictedgrowth.co.uk - Restricted Growth Association http://www.achondroplasia.co.uk/ - Achondroplasia UK
Slide 11 - Possibilities of a Cure Right now there is no treatment for Achondroplasia Though it is possible to recognize the condition before birth, there has been no development towards a cure. Surgery to extend the limbs can be performed, however this does not cure the condition and the limbs often become “locked” to the torso. All in all, it is possible that we will find a cure, but not for some time.
Slide 12 - Father and son with achondroplasia
Slide 13 - If 2 people with achondroplasia reproduced:
Slide 14 - Typical Bone Structure