About Genetic Brain Disorders

Any genetic disorder is a disease that is caused due to different forms of a gene, called a variation, or due to a change in a gene, known as a mutation. Genetic brain disorders are the disorders which affect the development and function of the brain specifically.

Some genetic disorders are caused because of random mutations of gene or mutations caused by environmental exposure such as cigarette smoke, etc. However, other disorders are inherited and the mutated gene or group of genes is passed down through a family. Still, there are other types of genetic brain disorders that are caused because of a combination of genetic changes as well as the exterior factors. Some of the genetic brain disorders have specific treatment to control the symptoms; however, some of them are life threatening and do not have treatments.

Many individuals with genetic brain disorders fail to produce enough of specific proteins that influence the development and functioning of the brain. These brain disorders may cause severe problems that affect their nervous system. Some of the genetic brain disorders include leukodystrophies, phenylketonuria, Wilson disease and Tay-Sachs disease.

4 Common Genetic Brain Disorders

4 Common Genetic Brain Disorders

Here are some of the genetic brain disorders.

Leukodystrophies:

One of the rare genetic brain disorder is leukodystrophies, that affect the brain cells. Most of the leukodystrophies are genetic. They generally appear during infancy or childhood. It must be mentioned that they can be hard to detect early, as children seem to be healthy at first. However, with time symptoms get worse.

This disease, specifically affects the myelin sheath, or the material that surrounds and protects nerve cells. Damage to the sheath would slow down or block messages between the brain and the rest of the body. This in turn may lead to several symptoms.

Symptoms:

  • Problem with movement.
  • Problem in speaking.
  • Problem with hearing.
  • Problem with speaking.
  • Physical and mental problems.

Treatments:

There is no cure for this genetic brain disorder. Medicines, speech therapy and physical therapy might help to some extent in treating some symptoms of the disease.
Researches are now testing bone marrow transplantation as a treatment for some kind of leukudystrophies.

Phenylketonuria:

Phenylketonuria or PKU is one type of amino acid metabolism disorder that is inherited. If you have it, then your body cannot process part of a protein known as phenylalanine or Phe. This is present in almost all foods. If your Phe level becomes excessively high then it can damage your brain and may cause severe intellectual disability. It is now mandatory that all babies that are born in the U.S.A hospitals must have a screening test for PKU. This makes it easier to diagnose and treat this genetic brain disorder early.

Symptoms:

There may be severe intellectual disability in people affected with this genetic brain disorder. Babies who get appropriate diet soon after they are born, develop normally. Many individuals may not have any symptoms. It is important to stay on the special diet for the rest of your life.

Treatments:

The best treatment for Phenylketonuria is a low protein diet. There are special formulas for newborns. For older children and adults with PKU, the diet includes many fruits and vegetables and also include some low-protein breads, cereals and pastas. Nutritional formulas provide the vitamins and minerals that you cannot get from their food.

Tay-Sachs Disease:

Tay-sachs disease is another type of genetic brain disorder, which is an inherited brain disorder. It is actually a type of lipid metabolism disorder and it causes excess of a fatty substance to build up in the brain of the affected person. This buildup in turn, destroys the nerve cells and causes mental and physical problems.

The cause of this disease, requires both the parents having the mutated gene. There is 25% chance of the child having Tay-Sachs disease, if both the parents have the gene. A blood test and prenatal tests can diagnose about the gene or the disease.

Symptoms:

New born kids with the disease appear to develop normally for the first few months of their life. However, gradually their mental and physical abilities decline. The affected child may become deaf, blind or may be unable to swallow, etc. Muscles of the child begin to waste away and paralysis sets in soon. Even with the best care, the affected children usually die by the age of four.

Treatments:

It must be mentioned that there is no cure for this genetic brain disorder. Medicine and proper nutrition may help in reducing some symptoms. Some children with this disease may require feeding tubes till they are alive.

Wilson Disease:

This is a rare inherited brain disorder that prevents your body from getting rid of extra copper. We need a small amount of copper from food so as to stay healthy. Excess amount of copper is poisonous to the body.

Normally, our liver releases extra copper in to a digestive fluid, the bile. When one suffers from Wilson disease, the copper builds up in the liver and it releases the copper straight in to your bloodstream. This, in turn, can cause damage to your brain, eyes and kidneys.

It must be mentioned that this genetic brain disorder is present at birth, however, symptoms start in between the age of 5 years and 35 years. It first attacks the liver and then the central nervous system or both.

Signs and Symptoms:

The most characteristic sign in Wilson's disease is a rusty brown ring around the cornea of the eye. This can be diagnosed by a physical examination and a laboratory test.

Treatments:

Treatments for Wilson's disease include drugs so as to remove the extra copper from your body. You need to take the prescribed medications and follow a low-copper diet for the rest of your life.

  • Make sure that you do not eat shellfish or liver, as these foods may contain rich amount of copper in them.
  • You will also require to avoid mushrooms, chocolates, nuts, at the beginning of the treatment.
  • It is also essential for you to have your drinking water checked for copper content.
  • Do not take multivitamins that contain copper in them.
  • Early detection of this genetic brain disorder can be helpful.

Conclusion:

It is essential to note the symptoms and know about the common genetic brain disorders and be attentive enough in consulting with expert medical professional to follow up the necessary diagnosis and treatments for immediate or quick cure.

Written, Edited or Reviewed By:

, MD, FFARCSI

Last Modified On: November 10, 2017

Pain Assist Inc.

Pramod Kerkar
  Note: Information provided is not a substitute for physician, hospital or any form of medical care. Examination and Investigation is necessary for correct diagnosis.

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