What is Progeria?
Progeria disease is a rare genetic disease that is triggered by a genetic mutation. It is called by a variety of names – Benjamin Button Disease or Hutchinson Gilford Progeria Syndrome(HGPS). Progeria Hutchinson Gilford is actually a type of progeria. The body begins to age rapidly in progeria, meaning a child starts looking old within 1-2 years after birth. Caused by a genetic mutation in the LMNA gene, children with the condition rarely live past 13 years of age. Around 1 in every 4 million babies are born with progeria disease.
Types
There are three types of progeria syndrome –
- The most common type of progeria syndrome is Hutchinson-Gilford Syndrome. It is a very rare yet a fatal disorder.
- The second type of progeria syndromes is the Wiedemann-Rautenstrauch Syndrome and occurs in children while they are still in-utero.
- The third type of progeria syndrome is the adult version of the disease and is called Werner Syndrome. This type usually occurs in teenagers, and people with this condition can live up to 40-50yrs of age.
Causes
Progeria causes are said to be a single gene mutation. This gene is the Lamin A (LMNA) that makes a specific protein that is required for holding the cell’s nucleus together. When there is a mutation or a defect in this gene, an abnormal form of the LMNA protein is formed called progerin, and this makes the cells highly unstable. This protein is responsible for the ageing process observed in the case of progeria.
If you are wondering if progeria is a family trait, then the answer is no. While many genetic mutations are passed down in families, this gene mutation itself is rare; it is not passed down in families. Till date, researchers have not been able to find any risk factors that can result in progeria.
Symptoms
The progeria symptoms usually appear in the child’s first two years after birth. One of the early signs of progeria is the slowing down of the child’s growth in the first year of life. However, motor abilities and intelligence remain unaffected. Progeria symptoms and signs are usually progressive in nature, the first changes being in the child’s physical appearance.
Signs and symptoms of progeria include:
- Retarded growth with a below-average height-weight ratio
- Small lower jaw, thin lips, narrow face
- Large eyes that cannot be closed all the way
- Big head that is disproportionate to the face
- Hair loss, including those on the eyelashes and eyebrows
- Thin, wrinkled skin
- Visible veins
- A high-pitched voice
- Skin shows spots
- Loss of fat in the body and muscles
While these are physical signs and symptoms, health issues that children with progeria tend to have include:
- Hearing loss
- Stiffness of joints
- Delayed and/or abnormal tooth formation and eruption
- Progressive and severe cardiovascular conditions
- Hardening of skin under the trunk and in the extremities that can appear and feel tight
- Hardening of arteries
- Loss and bone fragility
- Insulin resistance
- Skeletal abnormalities
- Hip dislocation tendencies
Treatment
There is no treatment for progeria. Though there is a lot of research underway for finding a cure, currently only occupational and physical therapy can help the children suffering from this condition. Before progeria treatment is planned for a child, a thorough evaluation and diagnosis is made. If a doctor suspects that a child has progeria, they will check for the following:
- Height and weight of the child are measured
- Hearing and vision are tested
- Comparison with a normal growth curve
- Measurement of vitals
- Checking for signs and symptoms that are typical of progeria
Progeria treatment usually involves symptomatic treatments and occupational therapy for the child.
- Physiotherapy may be recommended to reduce joint stiffness
- Eating a healthy diet and regular exercise are both very important
Since patients with progeria have frequent heart troubles, the doctor may usually prescribe statins or nitroglycerine for angina. They may also prescribe treatment for congestive heart failure in some patients. Cardiac surgery may be recommended in some patients. Progeria patients may also need dental care as dental problems are very common in this disease.
