Menkes disease is considered a rare, and often fatal neurodegenerative disease. It’s been known to affect the body’s ability to absorb copper.
Origins of Menkes disease
A doctor known as John Menkes, with his colleagues at Columbia University in New York published a scientific article, In 1962, about five male babies with a distinctive genetic syndrome.
The syndrome, now recognized as Menkes disease, Menkes syndrome or Menkes kinky hair disease, has been categorized as a copper disorder in the body.
Because people with Menkes disease can’t properly take in copper, the liver, the brain, and blood plasma suffer from this vital nutrient.
Other parts of the body that get affected include the spleen, kidney, and skeletal muscle which get accumulated with too much copper.
Who can be affected by Menkes disease?
Menkes disease can typically affect anybody from any ethnic backgrounds. The males are commonly affected by Menkes disease, because the gene affected is the X chromosome.
Unless for some certain unusual genetic occurrences, it’s unlikely for females to carry the defective gene, or display any symptoms of Menkes disease.
The disease is estimated to manifest anywhere from a person per 100,000 healthy babies to one in 250,000 healthy births.
Symptoms of Menkes disease
Symptoms in Menkes disease comes in variations, and can be mild or severe. A severe form of Menkes disease has peculiar symptoms, especially when the person affected is about two to three months old. Symptoms may include;
- Stunted growth
- Weak muscles
- Dull muscle tone
- Saggy cheeks
- Pronounced jowls
- Gray or white hair
- Short or sparse hair
Individuals with Menkes disease may not display all the symptoms of the disease or may have them in different degrees.
Diagnosis of Menkes disease
Menkes disease isn’t readily noticeable in the first few weeks after birth. Changes may start to occur when a child is about two or three months old. This is when significant changes starts to manifest.
However, in milder forms, children with Menkes disease don’t display symptoms until they are much older. Not in all cases though, female children with the defective genes may only have twisted hair.
Doctors look for these signs to make their diagnosis:
- Level of copper in placenta. This is tested in newborns.
- Abnormal catechol levels present in the blood and cerebrospinal fluid (CSF). The test can be carried on newborns as well.
- Skin biopsy to test for copper metabolism.
- Microscopic examination of the child’s hair to display Menkes abnormalities.
Treatment option for Menkes disease
Typically, since Menkes stops the ability for copper to reach the body’s organs and cells, then it’s only logical that getting copper to the organs and cells that are lacking, would reverse the disorder right?
Wrong! It’s not as simple as that.
Experts have attempted direct intramuscular injections of copper into the affected individuals, and different results were recorded.
It appears that positive results were gotten when the injections were given very early. Much changes aren’t shown when the disease is severe, however, milder forms of Menkes disease show promise when tackled immediately.
This therapy, and others, are currently still being researched on. The treatments of Menkes disease is also focused on relieving the symptoms, especially in severe cases of the disease. Asides medical applications, physical and occupational therapy can also improve treatment.
It is important to discuss a proper dietary plan with a specialist. The meal plan has to contain high-calorie foods, as well as supplements to help improve overall health.
Do you know anyone who is experiencing Menkes disease? Have you had any personal experiences with Menkes disease? Share your experiences with us in the comments below.