Signs And Symptoms Of Progeria: Cause, Diagnosis & Treatment

What Is Progeria?

  • Progeria is a rare genetic disorder characterized by features of premature aging of the child. This disease is also known by other names such as Hutchison-Gliford progeria syndrome or premature aging syndrome.
  • The appearance of child during birth is normal and healthy. Birth weight is usually within normal limits. However, the growth rate slows down and symptoms of aging start appearing as the child attains 18 to 24 months.
  • Typically child is not affected mentally or emotionally, all abnormalities develop at physical level.
  • On an average child suffering from progeria live till the age of 13, with an exception of some living till 20 years.
  • Progeria is extremely rare genetic disorder. 1 out of 20 million newborn babies are affected with this disease. The number of children suffering from progeria all around the world is less than 100.
  • Progeria is caused due to mutation in the LMNA gene. But the disease is not inherited from parents.
  • There is no cure for the disease. The child suffering from progeria usually dies from heart attack or stroke and disorders similar to those that elderly individual faces.

What Causes Progeria Disease?

  • The exact etiology of this disease was obscure. However, researchers are now able to find that genetic mutation is the cause of progeria.
  • The gene involved in this disease is LMNA gene located on chromosome 1. Mutation of LMNA gene causes progeria.
  • LMNA gene is involved in making a protein which keeps the nucleus of the cell structurally stable. The cell becomes weak when its center (nucleus) is weak. This is the main reason for early and rapid aging in progeria.
  • Unlike other diseases caused due to mutation of genes, progeria is not passed from parents. The genetic abnormality can occur randomly in an egg or the sperm before conception takes place.
  • The ratio of males suffering from progeria is slightly more than females.
  • At present there is no risk factor detected that may act as a trigger to cause progeria.

What Are Some Signs And Symptoms Of Progeria?

  • The child is born normal with normal weight.
  • The symptoms of rapid aging begin to appear after first year. Usually between 18 to 24 months of age.
  • Stunted growth.
  • Outstanding feature is absence of subcutaneous fat in face, chest, and in hands and legs.
  • Loss of hair from scalp and eyebrows. The head is large in comparison with the face with receding chin.
  • Prominent visible veins on scalp.
  • Inability to stand and walk properly.
  • Eyes appear prominent with beaked nose.
  • Stiffness of joints.
  • Frequent dislocation of hips.
  • The skin appears dry, scaly and wrinkled like an old person.
  • Decay and carries in teeth.
  • Intelligence of the child is not affected.
  • Hypertension, pain in chest, heart failure may later on occur due to early atherosclerosis of arteries.

Diagnosis And Treatment Of Progeria

Physician may suspect progeria from the physical appearance of the child. To confirm the diagnosis, several steps may be necessary.

  • Loss of hair from scalp and eye brows and appearance like an old person are the most prominent symptoms favoring progeria.
  • Diagnosis is confirmed with genetic tests for mutation of particular gene called LMNA on chromosome 1.
  • Diagnosis is confirmed when mutation of the gene is confirmed.
  • Other blood tests will help to know the cholesterol level in the blood.

Progeria is a fatal disease as there is no effective cure. Generally the child dies between 8 to 13 years of his life. Thus the aim is to ease symptoms and suffering of the patient.

  • Medicines to decrease the risk of heart attack and stroke. Medications are given to reduce raised lipid level in blood.
  • Physiotherapy helps to reduce stiffness of joints.
  • Growth hormones may be necessary to increase weight and height.
  • Medications to treat hypertension.
  • Angiography of heart and if needed angioplasty.