Progeria: A Rare Genetic Disorder

What Is Progeria?

genetic disorders

Progeria, also known as Hutchinson-Gilford Progeria Syndrome, is a rare genetic disorder that causes children to rapidly age. The prognosis of progeria is very poor, with many patients not living past the age of 13. It is an incredibly rare condition, with less than 1000 cases diagnosed per year. It is found equally in males and females.

Causes

Progeria is caused by a single gene mutation, resulting in the body’s production of a protein called progerin. Progerin builds up in the body’s cells and causes them to break down at a rapid rate, accelerating the aging process.

Types

There is only one type of progeria.

Symptoms

The symptoms of progeria are rarely present at birth, but begin to become apparent later in infancy. Many of the symptoms of progeria initially manifest in the physical attributes of the child but as the disease progresses, they begin to affect the various systems in the body.

  • A bigger head
  • Large eyes
  • A small lower jaw
  • A thin nose with a “beaked” tip
  • Ears that stick out
  • Veins you can see
  • Slow and abnormal tooth growth
  • A high-pitched voice
  • Loss of body fat and muscle
  • Hair loss, including eyelashes and eyebrows
  • Cardiovascular issues
  • Hardening of the arteries
  • Bone loss
  • Stroke

genetic disorders

Diagnosis

Since the symptoms of progeria are mostly apparent in physical attributes, they can be easily spotted by a pediatrician. If your pediatrician diagnoses your child with progeria, they may refer you to a geneticist to confirm the gene mutation that causes progeria.

Treatment

There is no cure for progeria and the prognosis is very poor. Most patients do not live past adolescence and ultimately die due to stroke or heart attack, much like an elderly individual would. Treatment for progeria focuses on alleviating some of the medical problems that progeria can cause. Medications can help resolve some of the symptoms that occur in later stages of progeria, helping the patient feel comfortable in their final years.

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