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Doctors for Menkes Disease in Mangalore
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Menkes syndrome is a disorder that affects copper levels in the body. It is characterized by sparse, kinky hair, failure to gain weight and grow at the expected rate (failure to thrive), and deterioration of the nervous system. Additional signs and symptoms include weak muscle tone (hypotonia), sagging facial features, seizures, developmental delay, and intellectual disability. Children with Menkes syndrome typically begin to develop symptoms during infancy and often do not live past age 3. Early treatment with copper may improve the prognosis in some affected individuals. In rare cases, symptoms begin later in childhood.
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?
Treatment is mainly symptomatic. Early parenteral copper-histidine supplementation may modify disease progression and some symptoms by providing extra copper to tissue and to copper-dependent enzymes. Oral administration of copper is ineffective as it is trapped in the intestines.
DID YOU KNOW?
A number of investigational therapies are going on for finding a cure for Menkes Disease