How Is Progeria Diagnosed?

Q:
How is progeria diagnosed?

A:
A doctor may
suspect progeria by observing the signs and symptoms. The diagnosis of progeria is based on recognition of common clinical features and detection of gene. After an initial clinical evaluation, a sample of the child’s blood will be tested to confirm the diagnosis of progeria.

1.      Clinical evaluation

  • Measure growth
  • Observe the body fat
  • Check skin/hair/nails/eyes
  • Check skeletal system/joints
  • Measure vital signs, including blood pressure

2.      Laboratory tests

  • Failure to complete secondary sexual development
  • Low serum leptin concentration.
  • Insulin resistance in up to 50% of individuals.
  • Specific genetic change, or mutation, in the progeria gene that leads to progeria

You need a definitive, scientific way to diagnose the children. This will lead to more accurate and earlier diagnoses, so the children can receive proper care.

Please consult your doctor for more information.

 

Keywords: diagnose progeria; diagnosis progeria.

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