Menkes' disease is linked to a problem in copper metabolism that can lead to even severe neurological deterioration. Let's find out more.
When we talk about Menkes disease, also known as Menkes syndrome, we mean a recessive disease that attacks copper levels leading to their deficiency.
It is a disease that strikes at a young age and seems to affect more male components. Unfortunately, the problems it leads to are very serious. And, for this reason, it is difficult for those suffering from this disease to become an adult.
How Menkes disease manifests itself
This syndrome has several typical characteristics that can lead to recognize it and distinguish it from others.
Among many are intellectual disabilities, developmental delay, muscle weakness, cardiomyopathy, seizures , extremely fragile arteries and extremely curly, steel-colored and sparse hair. In particular, in the case of Menkes' disease, sparse and woolly hair is one of the most recognized characteristics.
When in doubt, the disease can be found through blood tests that check copper levels and skin tests. Even an X- ray of the skull and skeleton can lead to a diagnosis and all thanks to the possible revelation in bone problems. However, it is a disease that is very important to recognize as soon as possible in order to start treatment.
What is the therapy for Menkes disease
Unfortunately, to date, this disease does not have a definitive cure. In most cases, in fact, those who suffer from it have a few years of life ahead of them. For this reason it is not a disease that affects adults .
Among the treatments that may still help are copper injections and other types of treatments that can help treat symptoms . These include medications to prevent seizures, pain relievers, and some forms of physical therapy that can help.
Research is obviously active and constantly looking for a cure that guarantees the longest and most serene life prognosis possible.
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