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Progeria | |
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Other names | Hutchinson–Gilford progeria syndrome (HGPS),[1][2] progeria syndrome,[2] Joseph syndrome |
A young girl with progeria (left). A healthy cell nucleus (right, top) and a progeric cell nucleus (right, bottom). | |
Pronunciation | |
Specialty | Medical genetics |
Symptoms | Growth delay, short height, small face, hair loss |
Complications | Heart disease, stroke, hip dislocations[5] |
Usual onset | 9–24 months[5] |
Causes | Genetic[5] |
Diagnostic method | Based on symptoms, genetic tests[5] |
Differential diagnosis | Hallermann–Streiff syndrome, Gottron's syndrome, Wiedemann–Rautenstrauch syndrome[5] |
Treatment | Mostly symptomatic[5] |
Medication | Lonafarnib[6][7] |
Prognosis | Average age of death is 13 years |
Frequency | Rare: 1 in 18 million[5] |
Progeria is a specific type of progeroid syndrome, also known as Hutchinson–Gilford syndrome or Hutchinson–Gilford progeroid syndrome (HGPS).[8] 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.[9][10] Severe cardiovascular complications usually develop by puberty, later on resulting in death.
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