Hutchinson-Gilford progeria syndrome
Hutchinson-Gilford Progeria Syndrome (pronunciation: hʌtʃɪnsən gɪlfɔːrd proʊˈdʒɪəriə sɪndroʊm) is a rare, fatal, genetic condition characterized by an appearance of accelerated aging in children. Its name is derived from the doctors who first described it, Jonathan Hutchinson and Hastings Gilford, and the Greek word "progeria" meaning prematurely old.
Etymology
The term "progeria" comes from the Greek words "pro" (πρό), meaning 'before' or 'premature', and "gēras" (γῆρας), meaning 'old age'. The condition was first described in detail in England, in 1886 by Jonathan Hutchinson and in 1897 by Hastings Gilford.
Symptoms
Children with Hutchinson-Gilford Progeria Syndrome typically appear normal at birth. By the first or second year of life, signs and symptoms, such as slow growth, hair loss, aged-looking skin, joint abnormalities, and a distinctive appearance (small face and jaw, pinched nose) become evident.
Causes
Hutchinson-Gilford Progeria Syndrome is caused by a mutation in the LMNA gene, which encodes for the protein lamin A. This protein plays a crucial role in determining the shape and stability of the nucleus within cells. The mutation results in the production of an abnormal version of the lamin A protein, known as progerin, which disrupts the structure of the nucleus and causes cells to die prematurely.
Diagnosis
Diagnosis of Hutchinson-Gilford Progeria Syndrome is based on the characteristic signs and symptoms. Genetic testing can confirm the presence of the LMNA gene mutation.
Treatment
There is currently no cure for Hutchinson-Gilford Progeria Syndrome. Treatment is focused on reducing complications and symptoms. This may include low-dose aspirin, physical and occupational therapy, and high-calorie diets.
See also
External links
- Medical encyclopedia article on Hutchinson-Gilford progeria syndrome
- Wikipedia's article - Hutchinson-Gilford progeria syndrome
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