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Hypotonia
Hypotonia


Definition:

Menkes syndrome is an inborn error of metabolism in which cells in the body cannot absorb enough copper.



Alternative Names:

Steely hair disease; Menkes kinky hair syndrome; Kinky hair disease



Causes, incidence, and risk factors:

Menkes syndrome is caused by a defect in the ATP7A gene. The defect makes it hard for the body to distribute and absorb copper. As a result, the brain and other parts of the body do not get enough copper.

Low copper levels can affect the structure of bone, skin, hair, and blood vessels and interfere with nerve function. Copper also builds up in the small intestine and kidneys.

Menkes syndrome is inherited, which means it runs in families.



Symptoms:
  • Bone spurs
  • Brittle, kinky hair
  • Feeding difficulties
  • Irritability
  • Lack of muscle tone, floppiness (hypotonia )
  • Low body temperature
  • Mental deterioration
  • Pudgy, rosy cheeks
  • Seizures
  • Skeletal changes


Signs and tests:

There is often a history of Menkes syndrome in a male relative.

Signs include:

  • Abnormal appearance of the hair under the microscope
  • Abnormally low body temperature
  • Bleeding in the brain
  • Slow growth in the womb

In males, all of the hairs will be abnormal. In females who carry this trait, only half of the hairs may be abnormal.

Tests include:

Genetic testing may show a change (mutation) in the ATP7A gene.



Treatment:

Treatment usually only helps when started very early in the course of the disease. Injections of copper into a vein or under the skin have been used with mixed results.



Expectations (prognosis):

Most persons with this condition die within the first few years of life.



Complications:
  • Seizures
  • Death


Calling your health care provider:

Talk to your health care provider if you have a family history of Menkes syndrome and you plan to have children. A baby with this condition will often show symptoms early in infancy.



Prevention:

See a genetic counselor if you want to have children and you have a family history of Menkes syndrome. Maternal relatives of a boy with this syndrome should be seen by a geneticist to find out if they are carriers.




Review Date: 4/15/2009
Reviewed By: Chad Haldeman-Englert, MD, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
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Phone: (603) 742-5252
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