Chua # 9 2 Slp Hgps (Hutchinson Gilford Progeria Syndrome)

1155 words - 5 pages

History/Overview
Progeria is a very rare fatal genetic condition of premature or accelerated aging in children. Symptoms are unrecognizable at birth, but in the first and next years that follows, bird-like facial features, enlarged skull, congenital hair and fat loss, dwarfism, growth failure, hearing loss, joint stiffness, dental crowding and cardiovascular diseases, characterization of the disease, will grow evident. There is physical manifestation alone. Intellect usually remains normal. Although genetic, it is not hereditary. It is “sporadic autosomal dominant” mutation. Both genders are vulnerable to this condition, and the average life span is 13 years. Common cause of death among ...view middle of the document...

September 24, 2012, results of the first drug trial on children with Progeria have shown positive results: improving cardiovascular health, weight gain, bone health and hearing. The drug used to treat Progeria is Farnesyltransferase Inhibitor (FTI) Lonafarnib.
There is no official cure yet.
Causes
HGPS is a condition caused by a genetic “sporadic autosomal dominant” mutation. It is usually not hereditary and only one genetic copy is to be changed to acquire the disease. As PRF would describe it,
“[It is] …a one-letter typo in the billions of letters that make up the chromosomal book.”
Specifically, it is mutation in the gene LMNA. Normally, LMNA produces the Lamina A protein which is responsible for keeping the nucleus of a cell stable by holding it together. In Progeria, instead of Lamina A protein, the LMNA produces Progerin, an abnormal Lamina A protein. This makes the causes the disruption of the stability of the nucleus and accelerates the aging process. Progerin has also been linked to Telomere dysfunction that is concerned with cellular aging, as well.
Diagnosis
Progeria can be diagnosed by clinical evaluation of common characterization or symptoms of accelerated aging: underweight, dwarfism, high-pitched voice, enlarged head, prominent veins all over the head and body, irregular small outpouching of skin, prominent eyes, dry skin with pigments or spots, alopecia or hair loss, dystrophic nails, lagophthalmos (inability to fully close the eyes, thin lips, delayed eruption and loss of teeth, dental crowding, osteoarthritis, low bone density, tightened joint ligaments, gait, hearing loss, insulin resistance is low, low serum leptin concentration, and development of severe progressive atherosclerosis or heart disease.
PRF Diagnostic Testing Program will further determine the presence of Progerins or LMNA Mutation through specialized blood testing.
Treatment/Medication
To lessen the effects of manifestations, frequent small meals are recommended. Routine modified stretching exercises, diet, medication, physical therapy, occupational therapy, and hydrotherapy, as well. When bones experience dislocation, physical therapy or bone-bracing is advised. Tooth extractions will help ease the problem of dental crowding. Thick shoe pads are asserted to provide comfort to minimize the pain of fat loss. Surgery or any operation that involves the bones should be avoided. Application of sunscreen is recommended during outdoor activities. Medications should be modified based on body mass/weight and not on age.
To monitor development, it is advised to have daily assessment, annual electrocardiogram (ECG), MRI (Magnetic Resonance Imaging) of head and neck, dental examination, neurologic examination, eye...

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