User:Mr. Ibrahem/Progeria
A genetic disorder which causes early aging / From Wikipedia, the free encyclopedia
Progeria is a genetic disorder in which symptoms resembling early aging occur in childhood.[1] Symptoms generally become apparent between 9 to 24 months of age with decreased growth, small face, and hair loss.[1] Those affected generally die between the age of 8 and 21 years old from heart disease.[1]
Progeria | |
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Other names | Hutchinson–Gilford progeria syndrome (HGPS),[1] progeria syndrome[2] |
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[1] |
Complications | Heart disease, stroke, hip dislocations[1] |
Usual onset | 9–24 months[1] |
Causes | Genetic (autosomal dominate)[1] |
Diagnostic method | Based on symptoms, genetic tests[1] |
Differential diagnosis | Hallermann–Streiff syndrome, Gottron's syndrome, Wiedemann–Rautenstrauch syndrome[1] |
Treatment | Mostly symptomatic[1] |
Medication | Lonafarnib[5] |
Prognosis | Average age at death is 13 years[1] |
Frequency | 1 in 6 million births[1] |
The cause is usually a new mutation to a gene that produces the lamin A protein.[1] After having one affected child, the chance of the next child being affected is as high as 3%.[1] It is a type of progeroid syndromes.[1][6] Diagnosis is based on symptoms and confirmed by genetic testing.[1]
Treatment is mostly symptomatic.[1] The medication lonafarnib was approved to treat progeria in 2020.[5] About 1 in 6 million people born are affected.[1] Males and females are affected equally frequently.[1] Progeria was first described in 1886 by Jonathan Hutchinson and 1897 by Hastings Gilford.[1]