Genetic Brain Disorders

Also called: Inborn genetic brain disorders

A genetic brain disorder is caused by a variation or a mutation in a gene. A variation is a different form of a gene. A mutation is a change in a gene. Genetic brain disorders affect the development and function of the brain.

Some genetic brain disorders are due to random gene mutations or mutations caused by environmental exposure, such as cigarette smoke. Other disorders are inherited, which means that a mutated gene or group of genes is passed down through a family. They can also be due to a combination of both genetic changes and other outside factors.

Some examples of genetic brain disorders include

Many people with genetic brain disorders fail to produce enough of certain proteins that influence brain development and function. These brain disorders can cause serious problems that affect the nervous system. Some have treatments to control symptoms. Some are life-threatening.

Symptoms of Genetic Brain Disorders

The following features are indicative of Genetic Brain Disorders:
  • fatigue
  • lack of appetite
  • abdominal pain
  • jaundice
  • tendency to bruise easily
  • fluid buildup in the legs or abdomen
  • problems with swallowing, speech or physical coordination
  • uncontrolled movements or muscle stiffness
  • intellectual disability
  • delayed development
  • emotional, behavioral and social problems
  • psychiatric disorders
  • neurological problems
  • hyperactivity
  • poor bone strength
  • skin rashes
  • a musty odor in the child's breath, urine or skin
  • fair skin and blue eyes
  • abnormally small head

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Common Causes of Genetic Brain Disorders

The following are the most common causes of Genetic Brain Disorders:
  • mutation CLP1 gene
  • smoking

Risk Factors for Genetic Brain Disorders

The following factors may increase the likelihood of Genetic Brain Disorders:
  • family history of brain disorder
  • being of certain ethnic descent

Prevention of Genetic Brain Disorders

No, it is not possible to prevent Genetic Brain Disorders.
  • geneticmutations invarious genes

Occurrence of Genetic Brain Disorders

Number of Cases

The following are the number of Genetic Brain Disorders cases seen each year worldwide:
  • Rare between 10K - 50K cases

Common Age Group

Genetic Brain Disorders can occur at any age.

Common Gender

Genetic Brain Disorders can occur in any gender.

Lab Tests and Procedures for Diagnosis of Genetic Brain Disorders

The following lab tests and procedures are used to detect Genetic Brain Disorders:
  • Blood and urine tests: To measure copper levels in the blood and to monitor the liver function
  • Eye exam: To check the deposits of excess copper in the eyes
  • Genetic testing: To identify the genetic mutations with the blood sample

Doctor for Diagnosis of Genetic Brain Disorders

Patients should visit the following specialists if they have symptoms of Genetic Brain Disorders:
  • Geneticist
  • General practitioner
  • Hepatologist
  • Dietitian

Complications of Genetic Brain Disorders if untreated

Yes, Genetic Brain Disorders causes complications if it is not treated. Below is the list of complications and problems that may arise if Genetic Brain Disorders is left untreated:
  • irreversible brain damage
  • neurological problems
  • abnormally small head
  • Emotional, behavioral and social problems
  • cirrhosis
  • liver failure
  • kidney problems
  • psychological problems

Procedures for Treatment of Genetic Brain Disorders

The following procedures are used to treat Genetic Brain Disorders:
  • Surgery: To eliminate the diseased liver and replace it with a healthy liver

Self-care for Genetic Brain Disorders

The following self-care actions or lifestyle changes may help in the treatment or management of Genetic Brain Disorders:
  • Buy low-protein products: To prevent phenylketonuria symptoms
  • Intake low-phenylalanine diet: To prevent phenylketonuria symptoms
  • Limit the amount of copper in diet: Protects you from developing Wilson disease
  • Avoid multivitamins that contain copper: Helpful in preventing Wilson disease

Alternative Medicine for Treatment of Genetic Brain Disorders

The following alternate medicine and therapies are known to help in the treatment or management of Genetic Brain Disorders:
  • Neutral amino acid supplements: Helps blocking absorption of phenylalanine
  • Physical therapy: Helps in managing the symptoms of Wilson disease

Patient Support for Treatment of Genetic Brain Disorders

The following actions may help Genetic Brain Disorders patients:
  • Online support groups: Talking with others who have mastered similar challenges can be very helpful
  • Registered dietitian: Helps to devise delicious low-phenylalanine dinners
  • Parents support: Encourage children with phenylketonuria to focus on sports, music or favorite hobbies

Time for Treatment of Genetic Brain Disorders

While time-period of treatment for each patient may vary, below is the typical time-period for Genetic Brain Disorders to resolve if treated properly under an expert supervision:
  • Disease cannot be treated but only maintained or effects reduced

Last updated date

This page was last updated on 2/04/2019.
This page provides information for Genetic Brain Disorders.
Amino Acid Metabolism Disorders
Carbohydrate Metabolism Disorders
Cerebellar Disorders
Genetic Disorders
Genetic Testing
Lipid Metabolism Disorders
Metabolic Disorders
Mitochondrial Diseases
Tay-Sachs Disease
Wilson Disease

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