Information on Menkes Disease Canandaigua NY

It is similar to baldness in the fact that Menkes disease is caused by a defective gene. The malfunctioning gene is supposed to regulate the metabolism of copper in the body. It is very different from other hair disorders because it affects far more than just the hair.

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Information On Menkes Disease

Author: Brian Welsch

There are literally hundreds of different types of hair disorders that effect millions of Americans every day. Many like dandruff and lice, are completely treatable with proper medication and shampoo. But certain types of hair disease like baldness are hereditary and cannot be fixed with medications. Unlike baldness, which affects many people, Menkes disease is considered a to be a rare disorder. A study in Japan from 1993-2003 found that Menkes disease incidence was 1 per 2.8 million live births and 4.9 per million male live births.

It is similar to baldness in the fact that Menkes disease is caused by a defective gene. The malfunctioning gene is supposed to regulate the metabolism of copper in the body. It is very different from other hair disorders because it affects far more than just the hair.

The disorder is predominantly found in infant males, however, milder variants have their onset in childhood or early adulthood. With Menkes disease copper accumulates at abnormally low levels in the liver and brain, but at higher than normal levels in the kidney and intestinal lining. It is not often diagnosed right away because infants that are born with Menkes disease show not symptoms right away.

Oftentimes an infant with Menkes disease will be born prematurely but then will not show any initial signs of the disease. They will develop normally for the first month or so, after which symptoms may begin to appear. Therefore, it is almost impossible to diagnosis early on.

Physical Symptoms Of Menkes Disease

The disease is characterized by the peculiar hair, which is a result of the improper copper metabolism. Hair is often kinky, wiry, and breaks easily. The hair is colorless or in some cases steele or copper colored. Hair that begins to grow is short, sparse, and coarse; it will come in only in patches on the sides and back of the head. It is also commonly referred to as kinky hair syndrome because of way hair grows on people who have the disease.

Infants that are diagnosed with Menkes disease will not be able to function and develop normally. Crawling, talking, sitting up on their own, and walking is slow to develop, in fact, many children will never pass these milestones of infancy.

The face of a infant with the disease will begin to develop abnormally. Sagging cheeks and ears, depressed nasal bridge, and a extremely arched palate are common symptoms that result from the copper imbalance. As the child develops the skeleton becomes brittle and may be prone to fractures.

Neurological Symptoms Of Menkes Disease

Aside from physical manifestations in the hair and facial features, Menkes disease is known to cause many neurological problems. Cerebral degeneration or retardation, from mild to severe, is common in most people with the disease. Those who are diagnosed may also have the inability to stabilize their body temperature, meaning that they can get over heated or the chills rapidly and without warning.

Vision in patients with the disease is sometimes impaired. Infants who have Menkes disease are often visually inattentive, they may not respond to their surroundings. The eyes are sometimes lacking pigmentation or are very light colored. In some cases iris may not develop fully, therefore it more light is let into the eye than necessary. This can cause discomfort as well as, cause severe visual impairment.

The disease also attacks the muscular system and development of tissue. Therefore, those with the disease may loose skin at the nape of the neck and over the trunk, where muscle should be. They may be unable to control bladder or bowel movements if they have a severe case.

Treatment

While research is underway, there is no cure for the disease. In fact, treatment with daily copper injections may only improve the outcome in Menkes disease if it begins within days after birth. Other treatment is merely symptomatic and supportive.

Original article : Menkes Disease

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