সংজ্ঞা
Menkes syndrome is an inherited genetic disorder due to an abnormal gene, ATP7A. Menkes syndrome causes impaired copper absorption. This results in arterial changes and deterioration of the brain.
Menkes syndrome is rare. It occurs in 1 out of every 50,000-100,000 births. It affects primarily males. Most children born with Menkes syndrome have a life expectancy of 3 to 5 years.
কারণসমূহ
Copper proteins are necessary for the body to build bone, nerves, and other tissue. Babies with Menkes syndrome have a genetic disorder that prevents the absorption of copper from the intestines and causes it to build up in excess amounts in the kidney, while remaining deficient in the liver and brain. This causes changes in the hair, brain, bones, liver, and arteries.
ঝুঁকির কারণ
A risk factor is something that increases your chance of getting a disease or condition. Risk factors for Menkes syndrome include:
- সেক্স পুরুষ
- Family members with Menkes syndrome
লক্ষণ
Children with Menkes are often born prematurely. Symptoms usually begin to show within three months after birth and may include:
- খিঁচুনি
- Brain degeneration and developmental delay
- Hypotonia (“floppy” muscle tone)
- হাইপোথার্মিয়া
- অস্টিওপোরোসিস
- ব্যর্থতা-সফলতা
Babies with Menkes syndrome often exhibit the following physical characteristics:
- Hair that is stubby, tangled, sparse, lacking in color, and easily broken
- Chubby cheeks
- Flattened bridge of the nose
- Face lacking in expression
রোগ নির্ণয়
The following tests may be done to diagnose Menkes syndrome:
- X-ray of the skull and skeleton to look for abnormalities in bone formation
- Blood tests to measure copper levels
চিকিৎসা
There is no cure for Menkes syndrome. Early treatment with intravenous copper acetate, oral copper supplements, or injections of copper histidinate may provide temporary benefit. Other treatments may be used to relieve symptoms.
প্রতিরোধ
There is no known way to prevent Menkes syndrome. If you have a family history of the disorder, you can talk to a genetic counselor when deciding whether to have children.