Progeria- The rapid aging

Progeria

Introduction

• Progeria is a rare genetic condition that causes a child's body to age fast. 
• It is an extremely rare autosomal dominant genetic disorder in which symptoms resembling aspects of aging are manifested at a very early age.
• The word progeria comes from two greek words, Pro & Geras. Pro means before or premature and geras means old age.
• Also known as Hutchinson- Gilford progeria syndrome (HGPS).
• It is first described in 1866 by Jonathan Hutchinson. It was also described independently in 1897 by Hastings Gilford that's why later it named as HGPS. 

Incidence rate

• Affects in 1 in every 4 million birth worldwide.

Facts about progeria

• The disease can lead to fatal heart complications and heightened risk of stroke.
• Progeria is incurable but symptoms can be managed.
• A drug called lonafarnib can extend the average 14 year life expectancy by 1.6 years.

Causes

HGPS is caused by a mutation in the gene called LMNA (Lamin A).                 

• This gene is responsible for the producing lamin A protein.                          
• Lamin A is the structure that holds the nucleus of a cell together.
• If it is produced, the cell becomes unstable. This causes premature aging.

Types of progeria

Classical HGPS

• Classically affected patients strongly resemble one another.

Non classical Atypical HGPS

• A group of patients with progeria that shows a definite overlap with patients with other syndromes "e.g. mandibulo-acral dysostosis".

Sign and symptoms

1. Distinctive Appearance

• Slowed growth with short stature
• Narrowed face, small lower jaw, thin lips and beaked nose.
• Head disproportionately large for the face.
• Prominent eyes and incomplete closure of the eyelids.
• Hair loss (Alopecia) including eyelashes and eyebrows.
• Thinning, spotty and wrinkled skin.
• Visible veins
• High pitched voice.
• Prominent scalp veins
• Narrow chest
• Age spots

2. Health Issues

• Severe progressive heart and blood vessels (Cardiovascular) disease.
• Hardening and tightening of skin on the trunk and extremities (Similar to scleroderma).
• Delayed and abnormal tooth formation.
• Some hearing loss
• Loss of fat under the skin and loss of muscle mass.
• Skeleton abnormalities and fragile bones.
• Stiff joints
• Hip dislocation
• Insulin resistance

Diagnostic method

• Recognition of common clinical features.
• Molecular genetic testing of LAMNA.
• Prenatal diagnosis and Pre-implantation genetic diagnosis (PGD)

Treatments

• No cure for progeria.
• Regular monitoring for CVD may help with managing the child's condition.
• Some children undergo coronary artery bypass surgery or dilation of cardiac arteries (angioplasty) to slow the progression of CVD.

Certain therapies may ease or delay some of the sign and symptoms. They include:

• Low dose aspirin: A daily dose helps may help prevent from heart attack and stroke.
• Other medications: Depending on child's condition, the doctor may prescribe other medications. Anti-coagulants to prevent clotting of blood. The use of growth hormone may help to increase height and weight of child.
• Physical and Occupational therapy: These may help for joint stiffness and hip problems that may help the child to be active. 
•   Extraction of primary teeth: Extraction may help to prevent problems associated with the delayed loss of baby teeth.

        

Life style and Home remedies

• Make sure the child stays well hydrated.
• Provide frequent, small meals.
• Provide opportunities for regular physical activities.
• Get cushioned shoes or shoes inserts for the child.