Progeria, Hutchinson-Gilford syndrome
Progeria
It is also known as Hutchinson-Gilford syndrome, in which children starts aging in first two years of life which is abnormal behavior of development. Progeria is a rare inherited disorder which include genetic mutations. The cause of death is usually heart diseases and stroke.
Symptoms
Signs and symptoms of progeria include:
- High-pitched voice
- Visible veins
- Hair loss
- Small lower jaw
- Narrowed face
- Retarred growth
- Prominent eyes
- Small height and weight
- Wrinkled skin
- Insulin resistance
- Hip dislocation
- Hearing loss
- Stiff joint
- Cardiovascular disease
Causes
Progeria is a genetic disorder which is inherited in nature. There is mutation in gene name Lamin A which formed protein which is required to hold cell nucleus together. Defected lamin A gene called progerin which make cell’s nucleus unstable.
Diagnosis
After taking history and doing general physical examination your doctor might recommend the following test to diagnose this syndrome:
- Hearing test
- Visual acuity test
- Anthropometric measurement
- Measure vital signs like pulse rate, blood pressure and respiratory rate
- Blood test to see the complete blood count
- Genetic testing to confirm the genetic mutation
Treatment
There is no cure for genetic disease and syndrome. But following treatment options will help to reduce the signs and symptoms:
- Occupational therapy helps in mobility
- Aspirin to prevent the thrombus formation and reduce risk of stroke
- Nutiriton assessment
- Dental hygiene
- Certain other medications like cholesterol lowering drugs, drugs for hypertension etc.
Lifestyle and home remedies
Following tips will help you:
- Use sunblock to prevent skin damage
- Avoid sedentary lifestyle
- Stay hydrated
- Vaccinate your child properly
- Take care the nutrition of your child