Progeria
Progeria is a specific type of progeroid syndrome, also known as Hutchinson–Gilford syndrome or Hutchinson–Gilford progeroid syndrome (HGPS). A single gene mutation is responsible for causing progeria. The gene, known as lamin A (LMNA), makes a protein necessary for holding the nucleus of the cell together. When this gene gets mutated, an abnormal form of lamin A protein called progerin is produced. Progeroid syndromes are a group of diseases that causes individuals to age faster than usual, leading to them appearing older than they actually are. Patients born with progeria typically live to an age of mid-teens to early twenties.
| Progeria | |
|---|---|
| Other names | Hutchinson–Gilford progeria syndrome (HGPS), progeria syndrome, Joseph syndrome |
| A young girl with progeria (left). A healthy cell nucleus (right, top) and a progeric cell nucleus (right, bottom). | |
| Pronunciation |
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| Specialty | Medical genetics |
| Symptoms | Growth delay, short height, small face, hair loss |
| Complications | Heart disease, stroke, hip dislocations |
| Usual onset | 9–24 months |
| Causes | Genetic |
| Diagnostic method | Based on symptoms, genetic tests |
| Differential diagnosis | Hallermann–Streiff syndrome, Gottron's syndrome, Wiedemann–Rautenstrauch syndrome |
| Treatment | Mostly symptomatic |
| Medication | Lonafarnib |
| Prognosis | Average age of death is 15 years |
| Frequency | Rare: 1 in 18 million |
Severe cardiovascular complications usually develop by puberty, later on resulting in death.
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