Signs and Symptoms
Progeria is a group of rare, genetic, human disorders which lead to premature aging. There are two major types of progeria. These are the Hutchison Gilford syndrome, which manifests in early childhood, and the adult-onset Werner syndrome. The relatively rarer Hallerman-Streiff-François syndrome, which is accompanied with dwarfism and other features of abnormal growth, might also be exhibited in some individuals. Progeria has a very low incidence rate of around 1 per 8 million live births, and this disease is intensively studied by gerontologists to discover clues regarding the processes of aging in humans. The disease was first described by English surgeon Jonathan Hutchison in 1886, and has thus been named after him. Another English surgeon, Hastings Gilford, also provided important insights into the signs and symptoms of the disease in 1897. The most common form of progeria, the Hutchison-Gilford syndrome, is characterized by a child developing early signs of aging. The child shows growth abnormalities, develops widespread alopecia, suffers from a scleroderma-like skin condition, and possess distinct progeria-like facial features involving a small face with prominent eyes and prominent scalp veins, a pinched nose, and a recessed jaw.
Gradually, the signs of aging in the child worsens as the child grows. Similar to an aging adult, the child develops wrinkles on the skin, suffers from atherosclerosis or narrowing of the blood vessels, has kidney and cardiovascular problems, as well as a degeneration of the musculoskeletal system. All of these symptoms will finally trigger death in the patient. Most patients die by the age of 30, with the median age of death being 13. Though some patients with the disease tend to posses mental retardation, most possess normal levels of intelligence. In the case of Werner syndrome, similar symptoms of progeria start developing during puberty, and signs of aging become clearly visible by the age of 20. Height is retarded, secondary sexual characteristics are usually underdeveloped, there is graying of the hair, a loss of teeth, eyesight and hearing impairments, multiple organ disorders, and sometimes even cancer develops in the patients of Werner syndrome. The average life span of Werner syndrome patients is around 47 years.
Progeria results from defects in the genetic material of the patient. The Hutchison-Gilford syndrome is not inherited, and therefore it is not passed on to successive generations, and is instead caused by a spontaneous (suddenly arising) mutation in the LMNA gene. Only one copy of this mutation in the cell is enough to induce the disease condition. Thus, the Hutchison-Gilford syndrome is an autosomal dominant genetic disorder. Unlike the former, the Werner syndrome is an inherited autosomal recessive genetic disorder that arises from mutations in the WRN gene. Two copies of the mutated gene, one from each parent, are required to produce the disease.
Diagnosis and Treatment
The appearance of signs and symptoms of progeria, and the genetic tests for mutations in progeria-specific genes, help physicians to diagnose the disease. Still, up to the present date, there is no known cure of progeria, though attempts are made to reduce the disease-related complications in the patients. Medications like aspirin help to delay atherosclerosis and improve cardiovascular functions. A high energy diet allows the child to remain stronger and fitter for a longer time. Hormonal treatments have been used to slow the aging process and help the patient gain weight and height, and new technologies like antisense RNA technology holds promise to modify the genetic expression of the patient to retard the production of proteins responsible for the aging process. Physical and occupational therapies might also be administered to the progeria patients to improve their mobility. Heart surgeries might be necessary to slow the progression of cardiac diseases. The patients of progeria need constant monitoring and care to ensure they can live healthily as long as possible.
Notable Individuals With Progeria
Over the years, despite their severe illness, many individuals affected by progeria have managed to influence the world and inspire many other progeria patients, teaching them how to smile and achieve in the face of numerous adversities. Leon Botha, born on June 4th, 1985 in Cape Town, South Africa, was a progeria sufferer who was also a hip hop DJ and painter. He died from a heart attack at the young age of 26. A teenage mind with the body of a 104 year old, Hayley Okines kept smiling and inspiring people all over the world before she died on April 2nd, 2015, succumbing to the symptoms of progeria. She won the Children of Courage Award, and participated in several stories and documentaries related to the rare diseases that affected her. Another patient, the American Sam Berns, helped spread awareness of the disease worldwide and was known for his love for local New England sports teams. He passed away January 10th, 2014 at the age of 17.
Research to treat progeria is currently progressing at a rapid pace. Recently, a ray of hope has been sparked with the discovery that Lonafarnib, a farnesyltransferase inhibitor previously used as an anticancer agent, has positive impacts on children affected by progeria. The drug has managed to improve the health and well being of progeria patients during the clinical trials conducted with this medicine. Research is also concentrating on other spearheading technologies, including stem cell therapy, gene therapy, and antisense RNA technology, as prospectively effective ways to cure the disorder.