Progeria
Genetic disorder that causes early aging
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Key Takeaways
- Progeria (also Hutchinson–Gilford syndrome or Hutchinson–Gilford progeroid syndrome ; HGPS ) is a type of progeroid syndrome.
- The affected gene, known as lamin A ( LMNA ), makes a protein necessary for holding the cell nucleus together.
- Progeroid syndromes are a group of diseases that cause individuals to age faster than usual.
- Severe cardiovascular complications usually develop by puberty, later on resulting in death.
- Children with progeria usually develop the first symptoms during their first few months of life.
Progeria (also Hutchinson–Gilford syndrome or Hutchinson–Gilford progeroid syndrome; HGPS) is a type of progeroid syndrome. 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. 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.
Signs and symptoms
Most children with progeria appear normal at birth and during early infancy. Children with progeria usually develop the first symptoms during their first few months of life. The earliest symptoms may include a failure to thrive and a localized scleroderma-like skin condition. As a child ages past infancy, additional conditions become apparent, usually around 18–24 months. Limited growth, full-body alopecia (hair loss), and a distinctive appearance (a small face with a shallow, recessed jaw and a pinched nose) are all characteristics of progeria.
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