Cockayne disease

Cockayne disease: Description, Causes and Risk Factors:Dwarfism, precociously senile appearance, pigmentary degeneration of the retina, optic atrophy, deafness, sensitivity to sunlight, microcephaly, and mental retardation; autosomal-recessive inheritance associated with defective excision repair of DNA.Cockayne syndrome is a rare disorder characterized by short stature and an appearance of premature aging. Features of this disorder include failure to gain weight and grow at the expected rate (failure to thrive), abnormally small head size (microcephaly), and impaired development of the nervous system. Affected individuals have an extreme sensitivity to sunlight (photosensitivity), and even a small amount of sun exposure can cause sunburn. Other possible signs and symptoms include hearing loss, eye abnormalities, severe tooth decay, bone abnormalities, and changes in the brain that can be seen on brain scans.CockayneCockayne syndrome can result from mutations in either the ERCC6 gene (also known as the CSB gene) or the ERCC8 gene (also known as the CSA gene). These genes provide instructions for making proteins that are involved in repairing damaged DNA. DNA can be damaged by ultraviolet (UV) rays from the sun and by toxic chemicals, radiation, and unstable molecules called free radicals. Cells are usually able to fix DNA damage before it causes problems. However, in people with Cockayne syndrome, DNA damage is not repaired normally. As more abnormalities build up in DNA, cells malfunction and eventually die. The increased cell death likely contributes to the features of Cockayne syndrome, such as growth failure and premature aging.Once a couple has a child with Cockayne syndrome, and is a known carrier, they have a 25% chance of having another child with the disease.Symptoms:Patients with Cockayne syndrome usually appear normal at birth.Eventually, they present with a typical facial appearance of a pinched, narrow face and a beaked nose.Mental retardation, microcephaly, and growth failure become evident over time.Photosensitivity and progressive worsening neurologic signs and symptoms of ataxia and quick jerky movements are also noted.Diagnosis:In Cockayne syndrome patients, UV-irradiated cells show decreased DNA and RNA synthesis.Laboratory studies are mainly useful to eliminate other disorders. For example, skeletal radiography, endocrinologic tests, and chromosomal breakage studies can help in excluding disorders included in the differential diagnosis.Brain CT scanning in Cockayne syndrome patients may reveal calcifications and cortical atrophy.Treatment:Treatment of patients with Cockayne syndrome is focused on the symptoms. Physical therapy is very important to help prevent contractures and maintain the ability to ambulate (walk). Sunscreen is especially important and excessive exposure to sun should be avoided. Medications are usually not indicated in these patients.NOTE: The above information is educational purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.

0 Comments

Submit a Comment

Your email address will not be published. Required fields are marked *

This site uses Akismet to reduce spam. Learn how your comment data is processed.

Scientists Determined How Much Coffee Is Too Much for Your Heart

Scientists Determined How Much Coffee Is Too Much for Your Heart

A new study from the University of South Australia in Adelaide aimed to determine how much coffee would increase the risk of developing cardiovascular disease in people with and without the genetic variant. For the study, the researchers analyzed data from 347,077...

[WpProQuiz 1]

Featured Products

Kangoo Jumps Training: 5 Beginner Exercises

In childhood, many of us dreamed of learning to jump high. Now, after years, it became easier - Kangoo Jumps has appeared. This is one of the relatively new, but quickly gaining popularity types of fitness training. There are several advantages of jumpers. ...

read more
All original content on these pages is fingerprinted and certified by Digiprove