Achondroplasia

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by MAKITRE000MPS
Last updated 4 years ago

Discipline:
Health & Fitness
Subject:
Health

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Achondroplasia

Detection

Features

A. According to genefacts.org “Exercise should be encouraged for strength building and obesity prevention.” This means that they have to deal with a lot of exercise. B. According to home.comcast.net there are “Two organizations concerned with the needs of individuals with growth problems and their families are Human Growth Foundation (HGF) and the Little People of America (LPA). Both groups serve as sources of information and support, and offer opportunities for parents to meet others facing similar challenges. Each organization has close contact."

Coping/Support

A. According healthline.com to one treatment that they will try in the future is “BioMarin has developed a drug and they believe it will increase bone growth in individuals with achondroplasia. They hope not just to see growth in the bones of the arms and legs, but also in the spine, skull, face, chest and other bony areas of the body that contribute to medical issues in achondroplasia. With potential growth in these other bones, they hope to see a decrease in the serious complications of achondroplasia, such as spinal stenosis, foramen magnum (opening at the base of the skull) stenosis/compression, obstructive sleep apnea and ear infections.” Says Ericka Okenfuss, MS, Lifetime Member, Medical Resource Director, Medical Advisory Board Member. Another treatment is “Some doctors use growth hormones to increase the growth rate of a child’s bones. However, their long-term effects on height have not yet been established.” Also a treatment that is currently being tried according to genome.wellcome.ac.uk “… growth hormone can help to achieve moderate growth in some children, and surgery can be used in some cases to increase leg length by up to 30 cm.” B. According to genome.gov some careers for people that are interested in genetic mutations are a “Genetic NurseGenetic nurses are specially trained to assist in the ongoing care of patients diagnosed with genetic conditions and diseases.”They also say that a“Medical GeneticistMedical geneticists are physicians who diagnose, treat, and support patients with genetic disorders and work as part of a team to minimize the impact of illnesses on patients' lives.” Is a career for people interested in genetic mutations.” Is also a career.

Reasearch

A. According to genefacts.org the tests/procedures done to diagnose Achondroplasia are “Achondroplasia may be suspected based on late prenatal ultrasound images or by clinical findings at birth. The diagnosis can typically be made based on physical exam and radiographic findings shortly after birth. Genetic testing is available in a prenatal or postnatal setting.”

Achondroplasia

A. According to merriam-webster.com the definition of Achondroplasia is “a genetic disorder disturbing normal growth of cartilage, resulting in a form of dwarfism characterized by a usually normal torso and shortened limbs, and usually inherited as an autosomal dominant trait.” B. According to ncbi.nlm.nih.gov the “Mutations in the fibroblast growth factor receptor (FGFR) gene family recently have been shown to underlie several hereditary disorders of bone development, with specific FGFR3 mutations causing achondroplasia (Ach)“ is the allele mutation that causes Achondroplasia.” C. According to ghr.nlm.nih.gov Achondroplasia is common “...in 1 in 15,000 to 40,000 newborns.” D. According to healthline.com the signs and symptoms of Acnondroplasia are “•short stature (significantly below average for age and sex)•short arms and legs (especially the upper arms and thighs) in comparison to body height•short fingers (the ring and middle fingers may also point away from each other)•disproportionately large head compared to the body•abnormally large forehead•underdevelopment of the mid-face region (between the forehead and upper jaw)”

A. According to www.genome.gov the treatments/therapies are “No specific treatment is available for achondroplasia. Children born with achondroplasia need to have their height, weight and head circumference monitored using special growth curves standardized for achondroplasia. Measures to avoid obesity at an early age are recommended.”

Treatment

Owner: https://c1.staticflickr.com/7/6218/6351112802_26bef42ae1.jpgDate: 3-24-15

Owner: https://geneticsandliterature.files.wordpress.com/2010/04/family_roloff.jpgDate: 3-24-15

Trevor Maki


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