Progeria

Progeria
 * =1.) Background Information on Progeria =

Jonathan Hutchinson first discovered Progeria in 1886, and Hastings Gilford then also studied and researched it in 1897.

It was discovered in England by these doctors.

Progeria was discovered under the circumstances of a 6-year-old boy who was studied by Jonathan Hutchinson. Hutchinson documented the features of hair loss and atrophy of the skin. In 1897, Hasting followed up this research and noticed it was a disorder. He names it Progeria from the Greek word meaning "prematurely old". || 

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 * 2.) Symptoms and Characteristics


 * Slowed growth, with below-average height and weight
 * Narrowed face, small lower jaw, thin lips and beaked nose
 * Head disproportionately large for the face
 * Large eyes and inability to completely close eyelids
 * Hair loss
 * Thinning, spotty, wrinkled skin
 * Visible veins
 * High-pitched voice
 * Delayed and abnormal tooth formation
 * <span style="color: #0f4a00; font-family: Times New Roman,Times,serif; font-size: 170%;">Some hearing loss
 * <span style="color: #0f4a00; font-family: Times New Roman,Times,serif; font-size: 170%;">Loss of fat under the skin and loss of muscle mass
 * <span style="color: #0f4a00; font-family: Times New Roman,Times,serif; font-size: 170%;">Skeletal abnormalities and fragile bones
 * <span style="color: #0f4a00; font-family: Times New Roman,Times,serif; font-size: 170%;">Stiff joints
 * <span style="color: #0f4a00; font-family: Times New Roman,Times,serif; font-size: 170%;">Hip dislocation
 * <span style="color: #0f4a00; font-family: Times New Roman,Times,serif; font-size: 170%;">Insulin resistance

<span style="color: #0f4a00; font-family: Times New Roman,Times,serif; font-size: 170%;">Progeria is usually detected in infancy or early childhood, and this genetic disorder starts in their first two years of life. Children with progeria usually appear normal at birth. Symptoms begin to appear during the first year.

<span style="color: #175900; font-family: Times New Roman,Times,serif; font-size: 170%;">There is no cure for progeria, but symptoms can be managed. A drug called Lonafarnib can extend the average <span style="color: #175700; font-family: Times New Roman,Times,serif; font-size: 170%;">14-year <span style="color: #0a4a00; font-family: Times New Roman,Times,serif; font-size: 170%;">lif <span style="color: #0f4a00; font-family: Times New Roman,Times,serif; font-size: 170%;">e expectancy by 1.6 years, and physical therapy can help the child keep moving if their joints are stiff.

<span style="color: #0f4a00; font-family: Times New Roman,Times,serif; font-size: 170%;">Keeping a healthy diet and taking the child to the doctor’s for examinations and tests can also help.

<span style="color: #0f4a00; font-family: Times New Roman,Times,serif; font-size: 170%;">The disorder is fatal. The child prematurely ages, and the average life expectancy is thirteen or fourteen years. || ||
 * <span style="background-color: #4f827f; color: #41eb26; font-family: Comic Sans MS,cursive; font-size: 18pt; vertical-align: baseline;">3.) Inheritance Pattern

<span style="color: #5c0027; font-family: Times New Roman,Times,serif; font-size: 170%;">The inheritance pattern of the disorder is autosomal dominant. This means that one copy of the altered gene in each cell is sufficient to cause the disorder.

<span style="color: #5c0027; font-family: Times New Roman,Times,serif; font-size: 170%;">In an autosomal dominant disease, if you inherit the abnormal gene from only one parent, you can get the disease. || ||
 * <span style="background-color: #293fb3; color: #fcdb2d; font-family: Comic Sans MS,cursive; font-size: 18pt; vertical-align: baseline;">4.) Environmental Factors

<span style="color: #9b32db; font-family: Times New Roman,Times,serif; font-size: 18pt; vertical-align: baseline;">There are not any environmental factors that can affect the symptoms of progeria. However, a child with progeria has a high risk for heart attacks and strokes that can happen at any age, so it is important for them to stay on a healthy diet. || ||
 * <span style="background-color: #406935; color: #35c6e6; font-family: Comic Sans MS,cursive; font-size: 18pt; vertical-align: baseline;">5.) How Common is the Disorder?

<span style="color: #e35ce6; font-family: Times New Roman,Times,serif; font-size: 170%;">Progeria is a very rare disorder that affects about 1 in every 4 million births worldwide. This disease affects both sexes and all races equally. || ||
 * <span style="background-color: #e6a373; color: #e00d66; font-family: Comic Sans MS,cursive; font-size: 18pt; vertical-align: baseline;">6.) Tests That are Done to Confirm a Diagnosis


 * <span style="color: #3c25cc; font-family: Times New Roman,Times,serif; font-size: 170%;">X-rays to detect abnormalities in bone
 * <span style="color: #3c25cc; font-family: Times New Roman,Times,serif; font-size: 170%;">Arthrography- an x-ray procedure with dye
 * <span style="color: #3c25cc; font-family: Times New Roman,Times,serif; font-size: 170%;">Bone scanning to show if there are any problems in the bones
 * <span style="color: #3c25cc; font-family: Times New Roman,Times,serif; font-size: 170%;">CT and MRI to see more detail than the x-ray
 * <span style="color: #3c25cc; font-family: Times New Roman,Times,serif; font-size: 170%;">DXA to evaluate bone density
 * <span style="color: #3c25cc; font-family: Times New Roman,Times,serif; font-size: 170%;">Ultrasonography to identify inflammation in around joints
 * <span style="color: #3c25cc; font-family: Times New Roman,Times,serif; font-size: 170%;">Arthroscopy to allow the doctor to look inside the joint
 * <span style="color: #3c25cc; font-family: Times New Roman,Times,serif; font-size: 170%;">Joint aspiration to determine what joint pain and swelling is caused by
 * <span style="color: #3c25cc; font-family: Times New Roman,Times,serif; font-size: 170%;">Nerve and muscle tests to determine whether the nerves supplying the muscles are functioning normally. || <span style="background-color: #50cc9f; color: #d9fa11; font-family: Comic Sans MS,cursive; font-size: 170%;">[[image:https://lh6.googleusercontent.com/XI9M7mEYQ2wI0HwCe0w7cGCepm8KwvEJvBUFvh04whsj2rjf9DaULtx9rEV3EIL2p1Xvf-4llY27AwRe1TANPm9JmXpRGV987g7fZi1IEDIdoEamFpBceuvaNTL5FlRZkrGMh72l]][[image:https://lh6.googleusercontent.com/xQ59p4rvfM-6uk1YbWvL1dmSKfu7XNhIITRBrGUQE68gJkSV29NdV-j6HmtlloOCVRPfKBkWpZC9DeRNBhY3C-wf-r9wyacn0g7DDNvluEgDlfSzD1vaqY1Eq567I6eCDYIFHTOq]] ||
 * <span style="background-color: #50cc9f; color: #d9fa11; font-family: Comic Sans MS,cursive; font-size: 170%;">7.) Chromosomes and Genes That are Responsible

<span style="color: #007063; font-family: "Times New Roman",Times,serif; font-size: 18pt; vertical-align: baseline;">This disorder is caused in a gene on chromosome one that codes for lamin A, a protein of the nuclear membrane. This disorder is caused by a gene mutation, and the LMNA gene is involved. || ||

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