Cockayne’s Syndrome

Below you will find more information about Cockayne’s Syndrome from Medigest. If you believe that you are suffering from any of the symptoms of Cockayne’s Syndrome it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Cockayne’s Syndrome and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Cockayne’s Syndrome comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.

Definition

Cockayne's syndrome is defined as an uncommon genetic disorder involving 'progressive multisystem degeneration'. The DNA or genetic material inside body cells is harmed by ultraviolet radiation. Generally, the body is able to repair the damaged DNA, but individuals with the syndrome are deficient of this ability.

Diagnosis

Diagnosis is based on indicative symptoms, but thorough examination and diagnostic tests will confirm the analysis. Some tests include urinalysis, CBC, X-rays, etc.

Treatment

Cockayne's syndrome doesn't have a cure at present, so treatment is centered on alleviating signs and improving quality of life. Occupational and physical therapy helps preserve joint function, as well as reducing contractures of muscle. A patient must protect themselves from sunlight through sunscreen and clothing, which will decrease cell damage.

Symptoms and Signs

The syndrome's most common manifestations include dwarfism or extreme growth deficiency, small head, underweight, mental deficiency, and unsteady gait. Other symptoms include seizures, optic atrophy, farsightedness, slender nose, thin skin, cool feet and hands, thin hair, small pelvis, weakness, incoordination, etc.

Causes

The syndrome is caused by two defective genes, CSA and CSB, which are inherited in an autosomal manner. Both genes cipher proteins that act together with transcriptional machinery components and proteins of DNA repair.

Discuss Cockayne’s Syndrome in our forums

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