Related articles: Progeria
Definition
Progeria is a rare genetic disease that causes premature and progressive aging of the body. This condition occurs in childhood and causes a premature death of the patient. The disease affects both males and females, with an incidence of one child per 4-8 million births.
Progeria is caused by a sporadic mutation in the LMNA gene, which encodes a protein (laminin A), which normally provides the molecular scaffold of the cell nucleus. The anomalous product, on the other hand, leads to a nuclear instability in the division of cells and leads to their premature death.
Most common symptoms and signs *
- Alopecia
- Hip pain
- Exophthalmos
- insulin Resistance
- Hearing loss
- macrocephaly
- Thinness
- micrognathia
- Osteoporosis
- Dry skin
- Reduced vision
- Joint stiffness
- Growth delay
- Skin sclerosis
- Brittle nails
Further indications
Progeria is characterized by accelerated aging that involves physical changes typical of old age (eg dry and wrinkled skin, baldness and decreased range of motion of the joints), but preserves the patient's intelligence and emotion.
The symptomatology develops during the first months of life, usually within two years, and includes growth defects (short stature, weight below average, absence of subcutaneous fat, narrow chest, delayed teeth eruption, etc.) and skull abnormalities facial (protruding eyes, micrognathia, macrocephaly, large fontanel, beaked nose and cranio-facial disproportion). Possible manifestations are also insulin resistance, partial hearing loss, hip dislocation, osteoporosis and atherosclerosis. Other health problems, often associated with normal aging (such as degenerative arthritis or the highest risk of developing a neoplasm), however, are absent during progeria.
Diagnosis is usually evident in appearance but must be distinguished with genetic testing from other causes of growth retardation. The average age at which death of progeria patients occurs is 12 years (life expectancy usually does not exceed twenty years). Death occurs mainly due to complications associated with coronary heart disease (myocardial infarction or congestive heart failure) and cerebrovascular disease (stroke).
At the moment, there is no specific treatment for progeria. However, some symptoms can be alleviated with constant supportive physiotherapy.
