 | This article needs additional citations for verification. (June 2021) |
| Progeria | |
|---|---|
| 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 15 years[citation needed] |
| 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 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 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.
- ^ James W, Berger T, Elston D (2005). Andrews' Diseases of the Skin: Clinical Dermatology (10th ed.). Saunders. p. 574. ISBN 978-0-7216-2921-6.
- ^ a b Rapini RP, Bolognia JL, Jorizzo JL (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.[page needed]
- ^ Dictionary Reference: Progeria Archived 2013-04-10 at the Wayback Machine
- ^ The Free Dictionary: Progeria Archived 2013-05-15 at the Wayback Machine
- ^ a b c d e f g "Hutchinson–Gilford Progeria – NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). 2014. Archived from the original on April 13, 2020. Retrieved 21 April 2017.
- ^ "FDA Approves First Treatment for Hutchinson-Gilford Progeria Syndrome and Some Progeroid Laminopathies". U.S. Food and Drug Administration (FDA) (Press release). 20 November 2020. Retrieved 20 November 2020.
This article incorporates text from this source, which is in the public domain.
- ^ "Drug Trials Snapshots: Zokinvy". U.S. Food and Drug Administration. 20 November 2020. Retrieved 11 December 2020. This article incorporates text from this source, which is in the public domain.
- ^ Cite error: The named reference
:3was invoked but never defined (see the help page). - ^ Roach ES, Miller VS (2004). Neurocutaneous Disorders. Cambridge University Press. p. 150. ISBN 978-0-521-78153-4.
- ^ Hsiao KJ (1998). Advances in Clinical Chemistry (33rd ed.). Academic Press. p. 10. ISBN 978-0-12-010333-1.
