More symptom information
Learn more about specific symptoms of this leukodystrophy in these pages.
Cockayne Syndrome (CS) is a rare genetic disorder caused by mutations in the ERCC6 or ERCC8 genes. They are involved in DNA repair mechanisms, leading to accelerated aging and various neurological symptoms. It presents in childhood and has three main types: CS Type 1, 2 and 3. Symptoms include growth failure, intellectual disability, skin sensitive to light, and premature aging features. Treatment focuses on managing symptoms and providing supportive care to enhance the individual’s quality of life.
A new diagnosis can be overwhelming as it brings unique challenges and adjustments, but it is important to remember that you are not alone.
Genes involved in repairing damaged DNA are mutated in this condition. This is either the ERCC6 (or CSB) gene, or the ERCC8 gene (or CSA).
When DNA is damaged by UV rays from the sun, or by other factors such as toxic chemicals or radiation, those with CS are not able to repair it themselves. Errors in DNA accumulate, eventually causing cells to die.
Autosomal recessive: In autosomal recessive conditions, two copies of the genetic mutation are needed to cause the condition. We all have two copies of every gene, one from our mother and one from our father. The parents of someone with an autosomal recessive condition both carry one copy of the gene with a genetic mutation. Therefore, someone with an autosomal recessive condition has two copies of the genetic mutation, one copy from each parent. Each child of parents that both carry the genetic mutation will have a 25% chance of having the condition, a 50% chance of carrying the genetic mutation (like the parent), and a 25% chance of not having the condition.
Genetic counselling is essential for affected families due to the inheritance pattern of the condition. This is available at hospitals and Regional Genetic Centres. Please contact your doctor if you have any questions.
Learn more about genetic testing and counselling here.
CS can be divided into three types. Type 1 or “classical begins in the first few years of life. Type 2 is more severe and begins at birth or shortly after. Type 3 is milder and may present in later childhood or as an adult. Some researchers see these as a spectrum of the same disease, others divide them into three types.
Characterised by short stature, facial abnormalities and microcephaly (unusually small head), those with CS will also see their skin age prematurely, experience extreme sensitivity to sunlight and suffer intellectual deficit. Wrinkled, aged appearance of the skin is caused by loss of fat under the skin. Facial abnormalities include an unusually thin nose, sunken eyes and poor eyelid closure, large misshapen ears and prognathism (protruding upper or lower jawbone). Tooth decay is likely to occur due to abnormal placement of the teeth. Sensorineural hearing loss and hepatomegaly (abnormally enlarged liver) are also common. Those with CS typically have large, cold hands and feet. Delayed development and progressive neurological problems such as spasticity, lack of coordination, weakness, and speech difficulties are common.
Adults with Cockayne Syndrome may be sexually underdeveloped.
Learn more about specific symptoms of this leukodystrophy in these pages.
Although there is currently no specific treatment for this leukodystrophy, there is condition management information that may be useful for you in managing your or your loved ones leukodystrophy.
There may be a current clinical trial, natural history study or patient registry for your condition. Check our current research page and ask your specialist doctor for more information.
We understand that research is a significant priority and source of hope for the leukodystrophy community. There is more research in leukodystrophy now than ever before. Alex TLC actively promotes and supports research in a number of ways.
Every month we update our database of research summaries with the most recent research. This includes summaries of leukodystrophy articles, clinical trials and pharmaceutical press releases. Our summaries allow our community to read about relevant recent research developments in a format that is easily understood.
Learn about the ways in which we can help in the how we support you section. When you or a family member been diagnosed with a leukodystrophy it may be difficult to know where to go for more advice – this information could help.
Our services and equipment section is here to help leukodystrophy patients and their families manage their condition. All information is based on our knowledge of UK services, however, our team are happy to receive support requests from other countries – email us.
You may be introduced to many different medical professionals which you may find confusing. View our guide to the health and care professionals you may encounter, with short descriptions about what they do.
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