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Menkes Disease Reviewed 07-01-2001 Get Web page suited for printing Email this to a friend or colleague Studies with patients Table of Contents (click to jump to sections) What is Menkes Disease?Is there any treatment? What is the prognosis? What research is being done? Organizations Related NINDS Publications and Information What is Menkes Disease? Menkes disease is a genetic neurodegenerative disorder of copper metabolism. It is characterized by seizures, psychomotor deterioration, failure to thrive, temperature instability (hypothermia), and strikingly peculiar hair. Copper is deficient in most tissues of Menkes disease patients, causing structural changes in the hair, brain, bones, liver, and arteries. The characteristic kinky hair is stubby, tangled, sparse, or steely and is easily broken. It is often white, ivory, or gray in color. Brain abnormalities such as atrophy, subdural hematoma, and/or rupture or thrombosis of arteries in the brain may occur. Weakened bones (osteoporosis) may result in fractures. Because it is an X-linked genetic trait, Menkes disease primarily affects males. Affected infants may be born prematurely. In some cases, normal or slightly slowed development may proceed for 2 to 3 months. At approximately three months of age, severe, developmental delay, loss of early development skills, and convulsions typically occur. Is there any treatment? What is the prognosis? What research is being done? National Organization for Rare Disorders (NORD)
National Institute of Child Health and Human
Development (NICHD) Related NINDS Publications and Information
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