Progeria
| 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 13 years, Invariably Fatal |
| Frequency | Rare: 1 in 18 million |
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 affected gene, known as lamin A (LMNA), makes a protein necessary for holding the cell nucleus together. When this gene mutates, an abnormal form of lamin A protein called progerin is produced. Progeroid syndromes are a group of diseases that cause individuals to age faster than usual, leading to them appearing older than they actually are. People born with progeria typically live until their mid- to late-teens or early twenties. Severe cardiovascular complications usually develop by puberty, later on resulting in death.