Menkes Kinky Hair Syndrome, also known as Menkes Disease, is a rare genetic disorder that affects the body's ability to absorb and distribute copper properly. It is named after John Menkes, the physician who first identified and described the condition in 1962.
The syndrome is classified as a type of congenital neurodegenerative disorder and primarily affects males, hence the name. It is caused by mutations in the ATP7A gene, which is responsible for producing a protein necessary for copper transport and metabolism.
One of the notable physical characteristics of Menkes Kinky Hair Syndrome is abnormal hair growth. Infants with this condition typically have sparse, coarse, and twisted hair that appears dull and matted. As they grow, the hair may become lighter in color and eventually fall out.
Apart from hair abnormalities, Menkes Kinky Hair Syndrome also affects the development of the central nervous system. Infants with the disorder may experience delayed milestones, such as sitting, crawling, and walking. They may also have seizures, muscle weakness, and developmental delays.
The syndrome often leads to severe neurologic deterioration, which can be life-threatening. Unfortunately, there is currently no cure for Menkes Kinky Hair Syndrome. Treatment primarily focuses on managing symptoms and improving the quality of life for affected individuals. Copper injections and supplementation may be administered to help balance copper levels.
Overall, Menkes Kinky Hair Syndrome is a rare genetic disorder characterized by abnormal hair growth, neurologic abnormalities, and impaired copper metabolism.
