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Doctors for Menkes Disease in Gunduperunbedu Village, Kanchipuram
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The term Menkes Disease is also referred to as Menkes Syndrome that is defined as a X-linked recessive disorder that has an affect on your copper levels. In most cases the disease begins right at infancy and may continue through life. Such infants or children would have a sagging muscle tone and facial features. They would also have issues like seizure, developmental decay, etc.
HOW IS MENKES DISEASE DIAGNOSED?
The specialist will diagnose the patient by a physical examination and look for specific signs and symptoms of the condition. Tests may include:
• Serum ceruloplasmin (substance that transports copper in the blood)
• Serum copper level
• Skin cell culture
• X-ray of the skeleton or x-ray of the skull
• Genetic testing
HOW IS MENKES DISEASE TREATED?
There is no treatment or cure averrable for Menkes right now but the problem can be controlled by giving the child copper supplements through subcutaneous, intramuscular or intravenous modes, which are highly beneficial.
DID YOU KNOW?
Research shows that infants identified with symptoms earlier and provided recommended therapy respond the best to the same and are able to lead almost regular lives too.