Hutchinson-Gilford Progeria Syndrome
Hutchinson-Gilford Progeria Syndrome (pronunciation: hʌtʃɪnsən gɪlfərd proʊˈdʒɪəriə sɪnˈdroʊm) is a rare, genetic disorder characterized by rapid aging in children. The term "Progeria" is derived from the Greek word "progeros" meaning prematurely old, and it is named after the physicians, Jonathan Hutchinson and Hastings Gilford, who first described the condition.
Definition
Hutchinson-Gilford Progeria Syndrome (HGPS) is a genetic disorder that results in rapid aging beginning in childhood. Affected children typically appear normal at birth, but in the first year, their growth rate slows and they begin to show signs of aging.
Symptoms
The symptoms of HGPS include Growth failure, loss of body fat and hair, aged-looking skin, stiffness of joints, Hip dislocation, generalized atherosclerosis, cardiovascular (heart) disease and stroke. The children have a remarkably similar appearance, despite differing ethnic background.
Causes
HGPS is caused by a mutation in the LMNA gene, which encodes the lamin A protein. The mutation results in the production of an abnormal version of the lamin A protein, known as progerin, which is responsible for the premature aging.
Diagnosis
Diagnosis of HGPS is based on the characteristic symptoms and confirmed by genetic testing showing a mutation in the LMNA gene.
Treatment
There is currently no cure for HGPS. Treatment is focused on reducing the symptoms and improving the quality of life. This may include low-dose aspirin, physical and occupational therapy, and high-calorie diets.
See also
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