Causative and risk factors
Progeria is caused due to a genetic mutation. It cannot be inherited or passed down from parents.
Clinical presentation
Patients with progeria fail to achieve proper growth, height and weight. There is loss of body fat. Skin starts to look aged with visible veins. There is loss of hair all over the body.
Head is disproportionately large for face; beaked nose with thin lips and prominent eyes. These individuals have micrognathia (small lower jaw) with a high-pitched voice. The tooth formation is delayed and abnormal.
There may be stiffness in the joints. The symptoms become progressively worse eventually leading to hip dislocation, stroke, scleroderma, insulin resistance and generalized atherosclerosis. However intelligence remains unaffected in patients with this disorder.
Investigations
Diagnosis is made on the basis of signs and symptoms and a clinical examination.
Sometimes, genetic testing may be done.
Treatment
Treatment is aimed at attempting to delay the signs of aging. Medications like blood-thinners, statins, anticoagulants etc. are prescribed. Physical therapy is recommended
There’s no cure for progeria. The average life expectancy for a child with progeria is about 13years.
