Free Essay On Type 1&2 There Is An Effect On The Type V-Collagen Which Affects The Strength Of The Connective Tissue

Type of paper: Essay

Topic: Medicine, Collagen, Family, Health, Skin, Syndrome, Autism, Disorders

Pages: 1

Words: 275

Published: 2020/12/28

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Kim DarDashian’s family has been circus performers for as long as she could remember. Called the “Fantastic Family of Flimsy Freaks”, Kim and her family often bent themselves into various positions that seemed unnatural to most yet the DarDashian family could do it with ease.
Kim recently dislocated her elbow. When the doctor asked how the injury occurred, Kim seemed truly baffled and stated that she was “just trying to lift up the salt shaker”. Assuming Kim was not being forthcoming in her answers for some unknown reason the doctor treated the dislocation and sent her on her way.
Less than a month later, Kim was back in the doctor’s office again with a dislocated knee. The doctor again asked Kim how she dislocated her knee and she stated that she was “just taking a step” and that “it just fell out”. She told the doctor she frequently had dislocations and that she was almost always in some sort of pain. By chance, Kim was wearing a shirt that advertised her family’s business and the doctor began asking questions about her unnatural flexibility.
The doctor soon measured the range of motion for several joints including the knees, elbows, and thumb. With little effort, the knees were hyperextended to 200° and the elbows were hyperextended to 210°. The thumbs were easily pushed back to touch the lateral anterior surface of the forearm. Based off these assessments, the doctor was able to reach a preliminary diagnosis.
1. What is the normal range of motion for the knees and the elbows?
The normal range of knee motion is 0-130 degrees during flexion and 120-0 degrees during extension. The elbow has a range of motion of 0-160 degrees during flexion and 145-0 degrees during extension (Merck Manual).
2. Based on Kim’s symptoms, what disease does she have? Why does her whole family seem to have the same type of hyper joint mobility?
Physically she has knees and elbows that could be hyperextended (200 degrees and 210 degrees respectively) along with thumbs that could easily be pushed back. It also seems that she obtained frequent joint dislocations and partial or incomplete dislocations, even without trauma. Additionally, it seems that her whole family has an autosomal dominant or autosomal recessive. She has a type of Ehlers–Danlos syndrome (EDS).
3. Kim (and her family) DO NOT have Marfan Syndrome. What test is used to differentiate between the two syndromes?
4. What is the etiology of this disease? (Hint: etiology is the physiological causeyour answer should be something that occurs at a chemical level and effects joints at a tissue level)
As there are 6 different types of this disease with some subtypes, to explain the etiology one would have to go into the each type. For each type of the disease there might be a different part of the connective tissue that is changed where the gene makes a difficient protein. In general, the connective tissue specifically formation and stabilization of collagen proteins in the connective tissue is imbalances. Collagen (from the Greek meaning glue) is like three ropes which wrap around each other to make a stronger rope. If there are a change in a certain amino acid in collagen it causes the rope to be loose in a space it should otherwise be tight. In brief:

Type 3 tenascin X (TN-X) is deficient in connective tissues which causes collagen density to be reduced and elastic fibers are thus fragmented

Type 4 type III collagen which affects the strength of the connective tissue

Type 6 an enzyme called lysyl hydrolase is deficient. This enzyme is needed to form and stabilize collagen
Type 7 type I collagen which affects the strength of the connective tissue
5. What kinds of treatments are available? (Hint: treatments do not always “cure” a diseasethey may only be palliative but they are still treatments)
No cure exists for this. Possibly in the future they could have some protein therapy available. Currently it remains palliative. Doctors usually monitor all the places that could be affected e.g. the cardiovascular system, and joints. In the latter they recommend a brace, occupational therapy and physical therapy. Any therapy that promotes muscular development and reduce muscle pain can be done. Braces might help prevent further hyperextension and joint damage (although the results may be limited) (Rombaut,2011). Medication can be prescribed to reduce muscle pain or conditions related to the disease. As a last resort surgery could be performed to repair some of the joints.
In general counseling should be done for the Dardashians so they do not overextend their joints early which has the long term effect. Teaching and emotional support could be given for friends and family. This information might be useful for the families chosen vocation of the circus. It is recommended her and her family should quit the circus. Possibly they might be able to go into another entertainment segments. It could be suggested they could start a hit in a reality show. Possibly they could make people idolize them for no apparent reason.
6. More severe forms of this disease exist and affect various body systems including the cardiovascular system, the integumentary system, and even the digestive system. Why?
Collagen is everywhere. As this is a genetic disorder the same gene that is expressed in the skin and joints will affect the EDS patient’s skin and joints will also affect other places where collagen is expressed e.g. blood vessels and the gut. The most severe cases with EDS (very loose collagen) might not have a high chance of survival. Particularly a mutation in Collagen alpha-1(III) chain causes aortic and arterial aneurysms in EDS patients.

References

Callewaert, Bert, et al. "Ehlers-Danlos syndromes and Marfan syndrome." Best practice & research Clinical rheumatology 22.1 (2008): 165-189.
Rombaut, Lies, et al. "Medication, surgery, and physiotherapy among patients with the hypermobility type of Ehlers-Danlos syndrome." Archives of physical medicine and rehabilitation 92.7 (2011): 1106-1112.
Dean, John CS. "Marfan syndrome: clinical diagnosis and management." European Journal of Human Genetics 15.7 (2007): 724-733.
Tinkle, Brad T., et al. "The lack of clinical distinction between the hypermobility type of Ehlers-Danlos syndrome and the joint hypermobility syndrome (aka hypermobility syndrome)." Am J Med Genet A 149.11 (2009): 2368-70.
http://www.merckmanuals.com/professional/special_subjects/rehabilitation/physical_therapy_pt.html

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WePapers. (2020, December, 28) Free Essay On Type 1&2 There Is An Effect On The Type V-Collagen Which Affects The Strength Of The Connective Tissue. Retrieved October 16, 2021, from https://www.wepapers.com/samples/free-essay-on-type-1-2-there-is-an-effect-on-the-type-v-collagen-which-affects-the-strength-of-the-connective-tissue/
"Free Essay On Type 1&2 There Is An Effect On The Type V-Collagen Which Affects The Strength Of The Connective Tissue." WePapers, 28 Dec. 2020, https://www.wepapers.com/samples/free-essay-on-type-1-2-there-is-an-effect-on-the-type-v-collagen-which-affects-the-strength-of-the-connective-tissue/. Accessed 16 October 2021.
WePapers. 2020. Free Essay On Type 1&2 There Is An Effect On The Type V-Collagen Which Affects The Strength Of The Connective Tissue., viewed October 16 2021, <https://www.wepapers.com/samples/free-essay-on-type-1-2-there-is-an-effect-on-the-type-v-collagen-which-affects-the-strength-of-the-connective-tissue/>
WePapers. Free Essay On Type 1&2 There Is An Effect On The Type V-Collagen Which Affects The Strength Of The Connective Tissue. [Internet]. December 2020. [Accessed October 16, 2021]. Available from: https://www.wepapers.com/samples/free-essay-on-type-1-2-there-is-an-effect-on-the-type-v-collagen-which-affects-the-strength-of-the-connective-tissue/
"Free Essay On Type 1&2 There Is An Effect On The Type V-Collagen Which Affects The Strength Of The Connective Tissue." WePapers, Dec 28, 2020. Accessed October 16, 2021. https://www.wepapers.com/samples/free-essay-on-type-1-2-there-is-an-effect-on-the-type-v-collagen-which-affects-the-strength-of-the-connective-tissue/
WePapers. 2020. "Free Essay On Type 1&2 There Is An Effect On The Type V-Collagen Which Affects The Strength Of The Connective Tissue." Free Essay Examples - WePapers.com. Retrieved October 16, 2021. (https://www.wepapers.com/samples/free-essay-on-type-1-2-there-is-an-effect-on-the-type-v-collagen-which-affects-the-strength-of-the-connective-tissue/).
"Free Essay On Type 1&2 There Is An Effect On The Type V-Collagen Which Affects The Strength Of The Connective Tissue," Free Essay Examples - WePapers.com, 28-Dec-2020. [Online]. Available: https://www.wepapers.com/samples/free-essay-on-type-1-2-there-is-an-effect-on-the-type-v-collagen-which-affects-the-strength-of-the-connective-tissue/. [Accessed: 16-Oct-2021].
Free Essay On Type 1&2 There Is An Effect On The Type V-Collagen Which Affects The Strength Of The Connective Tissue. Free Essay Examples - WePapers.com. https://www.wepapers.com/samples/free-essay-on-type-1-2-there-is-an-effect-on-the-type-v-collagen-which-affects-the-strength-of-the-connective-tissue/. Published Dec 28, 2020. Accessed October 16, 2021.
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