Hutchinson Gilford syndrome
Hutchinson-Gilford Progeria Syndrome Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare genetic disorder characterized by dramatic, rapid aging beginning in childhood. It is often referred to simply as "progeria." The condition is named after Dr. Jonathan Hutchinson and Dr. Hastings Gilford, who first described it in the late 19th and early 20th centuries.
Etiology[edit | edit source]
HGPS is caused by a mutation in the LMNA gene, which encodes the protein lamin A. Lamin A is a structural protein that is crucial for maintaining the integrity of the nuclear envelope. The mutation leads to the production of an abnormal form of lamin A, known as progerin, which causes the characteristic features of the disease.
Clinical Features[edit | edit source]
Children with Hutchinson-Gilford Progeria Syndrome typically appear normal at birth but begin to show signs of accelerated aging within the first two years of life. Common features include:
- Growth retardation
- Loss of body fat and hair
- Aged-looking skin
- Stiffness of joints
- Hip dislocation
- Generalized atherosclerosis
Diagnosis[edit | edit source]
Diagnosis of HGPS is primarily based on clinical features and can be confirmed by genetic testing for the LMNA mutation. Early diagnosis is crucial for managing symptoms and improving quality of life.
Management[edit | edit source]
There is currently no cure for Hutchinson-Gilford Progeria Syndrome. Management focuses on alleviating symptoms and may include:
- Physical therapy to improve joint mobility
- Medications to manage cardiovascular complications
- Regular monitoring for signs of atherosclerosis
Prognosis[edit | edit source]
The prognosis for individuals with HGPS is poor, with an average lifespan of 13 to 20 years. The most common cause of death is heart attack or stroke due to severe atherosclerosis.
Research and Future Directions[edit | edit source]
Research is ongoing to better understand the pathophysiology of HGPS and to develop potential treatments. Recent studies have focused on:
- Farnesyltransferase inhibitors (FTIs) to reduce the production of progerin
- Gene therapy approaches to correct the LMNA mutation
See Also[edit | edit source]
External Links[edit | edit source]
- [Progeria Research Foundation](https://www.progeriaresearch.org/)
NIH genetic and rare disease info[edit source]
Hutchinson Gilford syndrome is a rare disease.
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