Neuro Genetic Disorders: Testing

At birth, a child acquires the qualities of its guardians. In case any transformations happen, the child may acquire it and get a neurogenetic infection. Or a person can get a gene defect due to the influence of harmful environmental factors. The consequence is also neuro genetic problems. They affect various aspects of the brain.

Neurogenetic diseases can manifest both physical and psychological symptoms. It includes the deterioration of motor skills, mental abilities, memory, attention, and other cognitive functions. And such problems can appear at any moment of a person’s life, from birth to later age.

That is, neurogenetic disorders are the result of genetic defects in the nervous system. Depending on which gene was damaged, the signs can be different. And conditions can differ in their manifestations and characteristics. Usually, neuro genetic disorders can not be completely cured. Thus, the task of neurologists is to ease the signs of these diseases and improve patient’s life.

Most Common Inherited Neurological Disorders

Have you ever wondered why some people are more prone to certain neurogenetic disorders than others? All because genes can affect these conditions. They can affect people of all ages, from infants to older people. Its symptoms and consequences depend on the type of disease and its progression. Some of these infections can be slowed down and rehabilitated. And some of them can progress sharply and even lead to death.

Genetic neurological diseases can be challenging to manage and cope with. But there are treatments and therapies available that can help alleviate symptoms. Advances in neurology genetic testing can enhance health state through innovative cures. And a better understanding of the appearance and development of these diseases allows patients to understand their essence better. So, let’s take a closer look at some of the most common inherited neurological illnesses:

1. Spinal muscular atrophy

It is a genetic neurological disease. It affects the motor neurons in the spinal cord. The protein SMN (survival motor neuron) handles the performance of motor neurons. The SMN1 gene produces it. But due to a mutation in the gene, the production of the protein stops. And its absence provokes the gradual death of motor neurons and later muscle atrophy.

SMA can manifest itself at any age, both in a child and in an adult. The nature and severity of the disease depends on how large the damaged area is.

Symptoms:

• Weakness in upper and lower limbs.
• Disturbed swallowing.
• The curvature of the spine.
• Muscle twitching.

Doctors can not cure this neuro genetic disease completely. So, a complex approach to treatment includes compulsory physiotherapy.

2. Fragile X syndrome

The disorder is unique because it is a reason for a mutation on the X chromosome. So, it is a neurogenetic disorder that causes hard symptoms. In individuals with this syndrome, gene modification causes a deficiency of protein. It can lead to mental and behavioral symptoms.

Symptoms:

• Emotional problems.
• Speech and language delays.
• Seizures.
• Physical features such as a long face, large ears, and a prominent forehead.
• Motor coordination difficulties.

There is no cure for Fragile X syndrome, but treatments can help manage the symptoms. Treatment may include medication, speech therapy, and neurology genetic testing.

3. Huntington’s disease

Huntington’s disease is hereditary. It is a severe damage to the central nervous system. And it is accompanied by sharp movements, mental disorders, and dementia. The reason for its development is pathological changes in the human genome. 

This genetic neurological disease can impact the brain cortex and its soft tissues. Most often, the condition makes its debut at the age of 30-50. 

Symptoms:

• Involuntary squats.
• Irritability.
• Depressive state.
• Dance movements while walking.
• Unnatural placement of legs.
• Memory loss.

Today, Huntington’s chorea is incurable. Thus, all therapeutic measures aim to maintain the highest possible quality of patient life.

4. Friedreich’s ataxia

Friedreich’s ataxia is an inherited neurogenetic disorder. With it, the transport of iron from mitochondria in the body is impaired. It leads to damage to the cells in the nervous system, the eye’s retina, and bone tissue. The illness develops when the child receives a mutated gene from both parents.

Symptoms:

• Problems with coordination.
• A change in walking, such as a wide gait and a tendency to fall.
• Speech problems such as speech ataxia and dysarthria.
• Decreased hearing and vision.
• Deterioration of muscle strength and weight loss.

Doctors use specific medicines to treat this neuro genetic disturbance. Often, they also prescribe physical therapy for this.

5. ALS (amyotrophic lateral sclerosis)

Amyotrophic lateral sclerosis is a general term for a group of neuro genetic diseases. It is a result of the death of neurons that control skeletal muscles. The progressive degeneration of these cells leads to the deterioration of the patient’s health. After all, the brain loses the ability to initiate and control muscle movements. The typical age of onset of ALS ranges from 40 to 70 years. The genetic neurological disease is, on average, 1 case per 100,000 population.

Symptoms:

• Weakness in speech.
• Weakness in the limbs.
• Involuntary muscle contractions.
• Shortness of breath on inhalation.
• Changing the tone of voice.
• Decreased or increased reflexes.

There are no methods of treatment for this disease. There is only neurology genetic testing that slows down the progression of the illness.

Diagnosis of Neurogenetic Disorders

Doctors conduct a detailed diagnosis to ensure the presence of neuro genetic conditions. Sometimes it can take a long time. After all, it requires passing many examinations and tests:

• Clinical Evaluation

During this process, doctors will look for symptoms that disturb a person.

• Genetic testing

Neurology genetic testing is the next step if doctors suspect a neurogenetic issue. There are a few distinctive types of it. For example, chromosomal microarray analysis can detect large-scale deletions or duplications of genetic material. And whole exome sequencing can analyze all protein-coding genes in the genome.

• Imaging Studies

To know the type of disease, doctors need to assess the brain and nervous system structure. Thus, at this stage, they conduct tomography and MRT. It helps to see the changes and progression of the infection in the body.

• Family History

Sometimes doctors consider a patient’s family history. It helps to determine from which generation the disorder was inherited.

A Word From Lone Star Neurologists

A person can live for many years without knowing they have neuro genetic problems. But it can be too late for treatment when it progresses and manifests itself. Thus, regular consultation with a neurologist is mandatory to maintain health. Contact Lone Star Neurologists and get your health checked. Thanks to modern treatment methods, we will help you fix genetic neurological diseases. 

FAQ

• What are some genetic neurological disorders?

There are some common genetic neurological disorders:

1. Fragile X syndrome.
2. Amyotrophic lateral sclerosis.
3. Huntington’s disease.
4. Alzheimer’s disease.

• What is the number 1 most common neurological disorder?

Headache. The most significant number of patients in neurology complain about this disorder. It has several types and different symptoms.

• Is Alzheimer’s genetic?

Alzheimer’s can appear even when your relatives do not have the disease. But in most cases, Alzheimer’s is inherited. If your siblings or parents have it, you likely have it too.

• What genes are inherited from the father only?

All people acquire a Y chromosome from their father. So all traits that are on the Y chromosome come from father to child.