Neurogenetic Disorders

Children inherit their genetic material from their parents and their ancestors. This genetic code is important in determining the individual's life course. We inherit genes that help us flourish and survive. At the same time, some genes lead to undesirable conditions. What happens when people inherit genes that impact the nervous system?

What are Neurogenetic Disorders?

Many children across the globe are impacted by inherited genes that have an effect on the functioning of the nervous system. These illnesses, which can affect young and older adults, are often persistent and crippling. They can sometimes be fatal and degenerative. Body parts such as the brain, the spinal cord, the nerves, and the muscles are impacted by the presence of these mutations in the genes. Additionally, they can deteriorate the quality of life and cause problems in childhood and later life. Here is a list consisting of different types of neurogenetic disorders. Neurogenetic disorders come in a variety of forms. Not all of these disorders are inherited, even though they are all caused by genetic alterations.

Here are some types of neurogenetic disorders.

While symptoms of this condition differ depending on the type, some symptoms can get worse over time, while for some children, symptoms improve as they get older. Here are some examples of neurogenetic disorders found commonly across populations −

  • Huntington's Disorders − This is an inherited condition that leads to the degeneration of brain cells. Here, a person's movement and physical and cognitive coordination are largely influenced due to the malfunction of brain cells.

  • Inherited Dementias − This includes conditions like Alzheimer's disorders or frontotemporal dementia. These conditions can cause degeneration of brain cells that largely impacts the person's memory.

  • Motor Neuron Disorders − This includes conditions like Parkinson's, which causes progressive muscle degeneration in the body.

There are many other conditions caused by mutations or injury to the genes of the nervous system.

Diagnosing these Disorders

A severe and frequently worsening impairment results from a neurogenetic illness. Doctors often check patients' medical records, research their family history, interview and examine them, and conduct or obtain additional tests, such as genetic testing and neuro−imaging, to diagnose neurogenetic disorders. There are two main distinctions in neurogenetic disorders. They are illustrated here −

Our nervous system plays a very crucial role in the proper functioning of our body. It consists of the brain, the spinal cord, and the nerves that connect various sections of the system. There are central and peripheral networks throughout the system. The central nervous system includes the brain and the spinal cord, and the peripheral nervous system consists of the motor and sensory neurons. Both systems work in a well−coordinated manner for the effective functioning of the body. So if one or more parts are impacted due to any mutation, it can lead to a compounding effect on the rest of the system and other body parts.

Another important feature of the nervous system is neurotransmitters, which help communicate messages from the brain to different body parts. These are chemical messages that fire at a very rapid rate. This crucial network helps in daily activities like walking, talking, comprehension, and resting. They also aid in complex activities such as thinking and problem−solving.

In a neurogenetic disorder, the neurotransmitters can misfire, the neuronal matter can degenerate, or brain and spinal cord cells can die. This can lead to a fault in the system's overall functioning even when only some types of neurons are affected.

How are Neurogenetic Disorders Diagnosed?

In most cases, neurogenetic disorders are progressive. This means that a person diagnosed with these disorders may have to live for decades with a severe and progressive disability. As the progress of the disorder in degenerative neurogenetic disorders, one's capacity for independent living and quality of life may be impacted. When cognitive function also deteriorates, which affects one's capacity to think, comprehend situations, and recall loved ones and the past, it can be more devastating.

In earlier times, it was not easy to come to a proper diagnosis and establish a treatment plan due to limitations in diagnostic methods. This made it difficult to stop the progression or limit its effects. However, there are better ways of understanding the condition now. Here are some ways in which neurogenetic disorders are diagnosed.

  • Genetic mapping − Genome studies and genetic mapping are very helpful tools to recognize any genetic condition in the family. This helps formulate a treatment plan for anyone with a history of neurogenetic conditions. A detailed account of family history helps to educate potential parents if there are any risks. Additionally, when a mutation is detected during pregnancy or after childbirth, immediate interventions can help the patient.

  • Laboratory reports − Blood tests or DNA tests help identify the presence of gene abnormalities.

The parents or the caregivers of the child may notice signs that indicate clumsiness or other behaviors that are not typical. Additionally, the child may miss developmental milestones, which is another cause of concern. The clinician takes a detailed account of the child's concerns, family history, and behavioral history, and these are supplemented by other imaging and brain scans to rule out structural abnormalities.

How are Neurogenetic Conditions Managed?

Once a diagnosis is made, a multidisciplinary team provides interventions for the person. This includes neurologists, genetic counsellors, psychologists, speech therapists, and occupational therapists. The aim is to maximize the quality of life and functioning and to reduce complications and obstacles. Further, the doctor can prescribe medications to help the person with seizures, muscle stiffness, or other problems that make life difficult. Psychotherapy can help the person manage the emotional symptoms that come along with having a progressive condition. Gene therapy has proven to be a promising intervention in treating inherited and genetic anomalies. In this process, new cells are introduced to replace malfunctioning or missing genes.


Neurogenetic disorders occur due to missing genetic material or an individual's genetic code alteration. It can affect either one function or several functions of the nervous system. Thus, a person with this condition can have impacts that limit their functioning in daily life. Many neurogenetic conditions impact an individual's sensory, motor, and cognitive functions. A diagnosis can be made by physical examination, genetic testing, and laboratory tests supplemented by detailed case history. While it is difficult to cure the impairment in the DNA completely, treatment modalities focus on improving the quality of life and slowing down the progression of the disorders.

Updated on: 13-Dec-2022


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