Neurological Diseases

Neurological diseases are disorders that affect the nervous system. Structural or functional problems in the brain, brain stem, spinal cord and nerves, which are part of the nervous system, cause neurological diseases. There are hundreds of neurological diseases that have been described, and depending on which region of the nervous system is affected, physical, behavioral and mental symptoms may occur separately or together.

Neurological problems can be caused by many different reasons such as congenital anomalies, infections, injuries and genetic disorders.

Genetics in Neurological Diseases

It is known that many of the neurological diseases have a genetic basis. Many diseases such as epilepsy, autism spectrum disorders, learning difficulties, hearing loss and movement disorders are included in this group. Most neurogenetic diseases occur early in development and can be diagnosed early. However, there are also neurological diseases that occur in advanced childhood or adulthood.

Genes in the human body provide the information needed for the synthesis of proteins that are responsible for regulating vital events in the body. Neurological diseases can occur as a result of some harmful changes (mutations) in genes. In most cases these mutations are inherited and passed from generation to generation. In some cases, a mutation occurs spontaneously in a family member and is not passed on to the next generation. Genetic testing and genetic counseling provide information about the inheritance pattern of the mutation that causes the disease.


Epilepsy affects 50 million people worldwide.
Genetic factors play a role in 70% of epilepsies.
Epilepsy is one of the most common neurological diseases. It manifests itself with recurrent seizures and is a group of diseases mostly caused by interactions between genetic and environmental factors. In suitable patients, genetic testing may be helpful in identifying the underlying causes of epilepsy.

Neuromuscular Diseases

Neuromuscular diseases affect 1 out of every 1000 people worldwide and are mostly of genetic origin.
Neuromuscular diseases are a group of diseases that affect the muscles and nerves and cause problems of many different types and severity, such as movement and balance problems, muscle weakness, swallowing and breathing problems. Many neuromuscular diseases have been described and these diseases may show similar symptoms. Comprehensive genetic tests, which are frequently used in the diagnosis of neuromuscular diseases, allow the examination of many genes at the same time. Thus, it helps to distinguish diseases with similar findings, to confirm the diagnosis, and to determine the most appropriate treatment plan for the current disease.

Neurogenetic diseases may be caused by a problem in a single gene, or in some cases, they may exhibit a complex structure associated with dozens of genes and environmental factors. There are many different methods and types of tests to detect genetic problems. The application of the correct test in the correct order is very important to reach the most accurate and fastest diagnosis. The tests to be applied should be determined by a detailed evaluation of the patient and family history, accompanied by genetic counseling.
Genetic testing helps identify the underlying cause of neurological diseases.

What does genetic testing do?

  • To diagnose or confirm the diagnosis.
  • Referring patients to appropriate treatment and care services.
  • To ensure that patients are protected from complications by identifying possible symptoms in advance.
  • Identifying at-risk individuals in the family.
  • Identifying risks and options for the unborn child for families planning to have children.

What Do My Genetic Test Results Mean?

Positive result from test:

It means that a mutation has been detected in at least one of the tested genes.

A positive test result may have a different meaning depending on the reason you had the test. If you have had the test to determine your cancer predisposition, a positive result does not necessarily mean that you will get cancer. However, to reduce your risk, your doctor may suggest lifestyle changes or preventive interventions and treatments. Testing can be recommended for your family members at risk of carrying the same mutation. If the test is performed for treatment planning, appropriate and unsuitable treatments can be determined.

Negative result:

It means that no mutations were detected in any of the tested genes.
The negative result applies only to the genes included in the test administered to you. It does not mean that you are not at risk of cancer.

Indeterminate conclusion:
The effect of the change detected in the tested genes means that there is not enough information yet about whether it is harmful or not.
The next steps should be determined in line with your health condition and family history. Your test results should be re-evaluated at intervals to be determined by your genetic counselor, in the light of current information.