Menkes Disease Explained

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Menkes Disease 

What is Menkes Disease?  

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?

Early treatment with intravenous or oral copper supplements may be of some benefit. Other treatment is symptomatic and supportive.

What is the prognosis?

The prognosis for individuals with Menkes disease is poor. Most affected persons die within the first decade of life.

What research is being done?

The NINDS supports research on genetic neurodegenerative disorders such as Menkes disease. The goals of this research are to increase scientific understanding of these disorders and to find ways to prevent, treat, and cure them.



Organizations


National Organization for Rare Disorders (NORD)
P.O. Box 8923
(100 Route 37)
New Fairfield, CT 06812-8923
orphan@rarediseases.org
http://www.rarediseases.org/
Tel: 203-746-6518 800-999-NORD (6673)
Fax: 203-746-6481



National Institute of Child Health and Human Development (NICHD)
National Institutes of Health
Bldg. 31, Rm. 2A32
Bethesda, MD 20892-2425
NICHDClearinghouse@mail.nih.gov
http://www.nichd.nih.gov/
Tel: 301-496-5133 800-370-2943



Wilson's Disease Association, International
c/o H. Ascher Sellner, M.D.
4 Navaho Drive
Brookfield, CT 06804
hasellner@worldnet.att.net
http://www.wilsonsdisease.org/
Tel: 203-775-9666 800-399-0266
Fax: 203-743-6196

Source:  Public Domain

 


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