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Neuro Genetic Disorders: Testing

Sandeep Dhanyamraju
Medically reviewed by Chaitanya Bonda
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Sandeep Dhanyamraju
Medically reviewed by Chaitanya Bonda

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.

genetic neurological diseases

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.


  • 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.


  • 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. 


  • 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.


  • 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.


  • 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.

neurology genetic testing

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. 


  • 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.

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Edward Medina
Edward Medina
15:34 30 Jun 22
Just such an amazing staff that makes you feel like part of their family. I’ve been going there for over 5 years now... and each visit I get the very best care and treatments that I have ever received in the 20+ years that I’ve been dealing with severe debilitating migraines. Since i started seeing them the number of my migraines has dropped from 15-20 a month to 2-3 every 3 month. I highly recommend them …they will change your life!read more
Daneisha Johnson
Daneisha Johnson
22:20 19 May 22
Dr. Askari was very kind and explained everything so I could understand. The other staff were nice as well. I would... have gave 5 stars but I was a little taken aback when I checked in and had to pay 600.00 upfront. I think that should have been discussed in a appointment confirmation call or email just so I could have been more
Jean Cooper
Jean Cooper
16:54 29 Apr 22
I love the office staff they are friendly and very helpful. Dr. JODIE is very caring and understanding to your needs... and wants to help you. I will go back. would recommend Dr. Dr. Jodie to other Patients in a heart beat. The team works well more
Linda M
Linda M
19:40 02 Apr 22
I was obviously stressed, needing to see a neurologist. The staff was so patient and Dr. Ansari was so kind. At one... point he told me to relax, we have time, when I was relaying my history of my condition. That helped ease my stress. I have seen 3 other neurologists and he was the only one who performed any assessment tests on my cognitive and physical skills. At one point I couldn't complete two assessments and got upset and cried. I was told, it's OK. That's why you're here. I was truly impressed, and super pleased with the whole experience!read more
Leslie Durham
Leslie Durham
15:05 01 Apr 22
I've been coming here for about 5 years. The staff are ALWAYS friendly and knowledgeable. The Doctors are the absolute... best!! Jodie Moore is always in such a great mood which is a plus when you are already stressed. Highly recommendedread more
Monica Del Bosque
Monica Del Bosque
14:13 25 Mar 22
Since my first post my thoughts have changed here. It's unfortunate. My doctor and PA were great, but the office staff... is horrible. They never call you back when they say they will, they misinform you, they cause you too much stress wondering what's going on, they don't keep you posted. They never answer the phone. At this point I've left four messages in the last week, and I have sent three messages. Twice from their portal and one direct email. No response. My appointment is on Monday morning at 8:30am, no confirmation on my insurance and what's going on. What the heck is going on, this is ridiculous!I've given up... the stress her office staff has put me through is just not worth it. You can do so much better, please clean house, either change out your office staff, or find a way for them to be more efficient please. You have to do something. This is not how you want to run your practice. It leaves a very bad impression on your more
Ron Buckholz
Ron Buckholz
23:32 23 Mar 22
I was actually pleasantly surprised with this visit! It took me a long time to get the appointment scheduled because no... one answers your phones EVER! After a month, I finally got in, and your staff was warm, friendly, and I was totally impressed! I feel like you will take care of my needs!read more
Steve Nabavi
Steve Nabavi
16:28 16 Mar 22
It was a nice visit. Happy staff doing all they can do to comfort the patients in a very calming environment. You ask... me they are earned a big gold star on the fridge. My only complaint they didn't give me any more
Katie Lewis
Katie Lewis
16:10 10 Feb 22
Had very positive appointments with Jodie and Dr. Sheth for my migraine care. Jodie was so fast with the injections and... has so much valuable info. I started to feel light headed during checkout and the staff was SO helpful—giving me a chair, water, and taking me into a private room until I felt better. Highly recommend this practice for migraine patients, they know what they’re doing!!read more
Joshua Martinez
Joshua Martinez
16:02 10 Dec 21
I was scheduled to be checked and just want to say that the staff was fantastic. They were kind and helpful. I was... asked many questions related to what was going on and not once did I feel as though I was being brushed off. The front desk staff was especially great in assisting me. I'm scheduled to go back for a mri and am glad that I'll be going more
Isabel Ivy
Isabel Ivy
21:42 03 Nov 21
I had such a good experience with Lone Star Neurology, Brent my MRI Tech was so awesome and made sure I was very... comfortable during the appointment. He gave me ear plugs, a pillow, leg support and blanket, easiest MRI ever lol 🤣 My 72 hour EEG nurse Amanda was also so awesome. She made sure I was take care of over the 3 days and took her time with the electrodes to make sure it was comfortable for me! Paige was also a huge help in answering all my questions when it came to my test results, and letting me know her honest opinions about how I should go forth with my more
Leslie Luce
Leslie Luce
17:37 20 Oct 21
The professionalism and want to help attitude of this office was present from the moment I contacted them. The follow... up and follow through as well as their willingness to find a way to schedule my dad was above and beyond. We visited two offices in the same day with the same experience. I am appreciative of this—we spend a lot of time with doctors and this was top notch start to more
robert Parker
robert Parker
16:38 16 Apr 21
I love going to this office. The staff is friendly and helpful. The doctor is great. I am getting the best... neurological tests and treatment I have ever had. The only reason I did not give them a 5 star rating is because it is impossible to reach a live person at the office to reschedule appointments. Every time I have tried to get through to the office it says all people are busy and I am sent to a voicemail. If they could get their phone answering fixed, I would give them a strong 5 more
MaryAnn Hornbaker
MaryAnn Hornbaker
00:26 25 Feb 21
Dr. Harney is an excellent Dr. I found him friendly , personable and thorough. I evidently am an unusual case. ... Therefore he spent a Hugh amount of time educating me. He even gave me literature to further explain my condition and how to follow up. This is something you rarely get from your doctors. So I am more than please with my doctor and his more
Roger Arguello
Roger Arguello
03:05 29 Jan 21
Always courteous, professional. The staff is very friendly and always work with you to find the best appointment time.... The care team has been great. Always taking the time to listen to your concerns and to find the best more
Margaret Rowland
Margaret Rowland
01:12 27 Jan 21
I have been a patient at Lone Star Neurology for several years. Now both my adult daughters also are patients there. I... love Jodie. She is always so prompt whether it is a teleamed call are a visit in the office. She takes the time to explain everything to me and answers all my questions. I am so blessed to have Jodie as my more
Susan Miller
Susan Miller
03:01 13 Jan 21
My husband had an accident 5 years ago and Lone Star Neurology has been such a blessing to us with my husbands care.... Jodie Moore is his provider and she is amazing! Jodie is very knowledgeable, caring, and thorough. She takes her time with you, making sure your needs are met and she is happy to answer any questions you may have. Lone Star Neurology’s patients are very lucky to have Jodie providing their care. Thank you Lone Star Neurology and especially Jodie for everything you have done for us. Jodie, you are the best!read more
Windalyn C
Windalyn C
01:32 09 Jan 21
Jodie is wonderful. She is very caring and knowledgeable. I have been to over a dozen neurologists, and none were able... to help me as much as they have here. Thanks!read more
Katie Kordel
Katie Kordel
00:40 09 Jan 21
Jodi Moore, nurse practitioner, is amazing. I have suffered from frequent, debilitating headaches for almost 20 years.... She has provided the best proactive and responsive care I have ever received. My quality of life has been greatly improved by her caring approach and tenacity in finding more
Ellie Natsis
Ellie Natsis
15:41 07 Jan 21
I have had the best experience at this neurologist's office! For over a year I have been receiving iv treatments here... each month and my nurse, Bobbie is beyond wonderful!! She's so attentive, knowledgeable, caring, and detail oriented. She makes an otherwise uncomfortable experience much more pleasant and definitely puts me at ease! She also helps me with my insurance,ordering this specialty medication and dealing with the ordering process which is no easy feat.Needless to say, she goes above a beyond in every way and I'm so grateful to this office and to Bobbie for all they do for me!read more
Matt Morris
Matt Morris
15:39 07 Jan 21
Let me start by saying that I have been coming here for years. Due to my autoimmune disease, I am in this office... once every three weeks for multiple hours at a time. The office is very clean and the staff very friendly. My only complaint would be there communication via phone. They aren't the best at responding if you leave a voicemail and expect a call back. I understand that this is prob just due to the sheer number of alls they receive daily. What I can say I like the best about the office are the people. Bobby who handles my infusions is great. I never have any issues with her setting up my infusions. She is very quick to reply to messages sent via text and if she were to leave then my whole opinion of the office may change. I also enjoy people like Matt, Lauren, and Jodi. I appreciate all that they do for me and without this team I'm not sure I would be as happy as I am to visit the office as frequently as I have to. Please ensure that these folks are recognized as they are what makes my visit to this office so tolerable :).read more
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