Progeria

HGPS- Hutchinson Gilford Progeria syndrome

History

In 1886, Doctor Jonathan Hutchinson described this disease for the first time. He tested a boy that was 6 years old who had absence of hair and atrophy of skin. In 1897, Hutchinson made "progeria" an official disease. Seven years later, in 1904, Doctor Hastings Gilford did the same.

Jonathan Hutchinson

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Hastings Gilford

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Characteristics

One symptom is growth failure. During the first years of living, a child with progeria will not grow as fast physically. People with progeria are small in stature. Also, their head or face will be larger than normal. Another condition is loss of hair. Progeria infected children are most likely bald. they also have no eyebrows or eyelashes. Also, their skin is very dry. it could also be very thin or look scaly. Children with progeria have swollen blood veins. This is why you can see their veins better on their head.

Daily life would include many therapy sessions. Including, but not limited to, physical therapy and family counseling. Progeria patients have many heart attacks and strokes. Death is most likely cause by strokes or heart attacks. The life expectancy for someone with progeria is thirteen. In some, but not very many, death will occur in the early twenties.

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Causes

Mutation of this disease is in chromosome one. It is where the lamin A protein is abnormal. This makes the nucleus unstable. this is the LMNA gene. It is a single letter misspelling on the chromosome.
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Treatment

There is no cure yet found for this disease. Some possible helpers could be low-dose of aspirin to help prevent strokes. Physical Therapy to help joint stiffness. or Lonafarnib which is a cancer medicine effective in progeria.
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Bibliography