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What is Friedreich Ataxia Disease

Sandeep Dhanyamraju MD
Medically reviewed by Sandeep Dhanyamraju
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Sandeep Dhanyamraju MD
Medically reviewed by Sandeep Dhanyamraju

What is Friedreich ataxia disease? FA stands for an uncommon hereditary neurodegenerative condition. The hallmark of this disease lies in the gradual deterioration of the CNS. Progressive damage marks the hallmark of the disorder. It got its name in honor of the German doctor Nikolaus Friedreich. He first described it in the 19th century. FA primarily affects coordination and balance. A mutation in the FXN gene causes the infection. It leads to reduced production of frataxin, a crucial protein for mitochondrial function. This impairment results in the spinal cord and peripheral nerve tissue degeneration. It causes gait instability, loss of coordination, muscle weakness, and speech difficulties.

Onset typically occurs during childhood or adolescence. FA advances, and individuals may experience heart complications and other associated health issues. But, there is currently no cure for this illness. There is supportive therapy and physical rehabilitation necessary. Emerging research into potential treatments aims to manage signs and improve the quality of life. It is vital for those affected by this challenging genetic disorder. We will help you to check out what is Friedreich ataxia disease.


Understanding Friedreich Ataxia Disease

Understanding Friedreich Ataxia Disease

FA is a rare and progressive neurodegenerative disorder. That profoundly impacts the nervous system. Primarily inherited, FA is usually caused by a mutation in the FXN gene. It is leading to insufficient production of frataxin, a vital mitochondrial protein. This deficiency triggers the degeneration of nerve tissue in the spinal cord and peripheral nerves. It results in a range of debilitating Friedreich ataxia symptoms.

  • Clinical Manifestations: The onset of Friedreich’s Ataxia typically occurs during childhood or adolescence. Early signs include gait instability, loss of coordination, and muscle weakness. They are progressively evolving to impact fine motor skills and speech. As the disease advances, individuals may face more challenges. Among them are scoliosis, heart complications, and diabetes. They are contributing to the complexity of its clinical manifestations.
  • Genetic Basis: Understanding the genetic basis of FA is paramount. The mutation in the FXN gene involves the expansion of GAA triplet repeats. It is leading to reduced frataxin levels. Frataxin plays a crucial role in mitochondrial function. Its deficiency disrupts energy production, contributing to cellular dysfunction and neurodegeneration.
  • Management and Research: Friedreich’s Ataxia currently lacks a cure. Ongoing research explores potential therapeutic interventions. Supportive treatments include physical therapy and mobility aids. They aim to ease signs and enhance quality of life. Genetic counseling is crucial for families affected by FA. It offers insights into the hereditary nature of the condition.

Comprehending this disease involves recognizing its genetic underpinnings. It consists of understanding the diverse Friedreich ataxia symptoms. Also, comprehending applies and embracing ongoing research efforts. They are necessary for improved management strategies. As medical knowledge advances, a comprehensive understanding of FA becomes instrumental. It is vital in fostering compassionate care and exploring avenues for breakthroughs in therapy.


Friedreich Ataxia Inheritance

It is pivotal to comprehend the Friedreich Ataxia inheritance. Also, it is vital to grasp the genetic underpinnings of this rare neurodegenerative disorder. FA is primarily inherited in an autosomal recessive manner. It means an individual must inherit two copies of the mutated FXN gene – one from each parent – to develop the condition.

Critical Aspects of Inheritance:

  • FXN Gene Mutation: The causative factor in Friedreich’s Ataxia is a mutation in the FXN gene. Specifically, a GAA triplet repeat expansion occurs and reduces frataxin production. It is a critical protein for mitochondrial function.
  • Autosomal Recessive Pattern: The autosomal recessive inheritance pattern emphasizes. Both parents must carry one copy of the mutated gene. Carriers with one standard and mutated FXN gene typically do not show symptoms.
  • Genetic Counseling Significance: Recognizing the inheritance pattern is vital for genetic counseling. Understanding the likelihood of passing on a mutated gene to offspring influences decision-making. They are about family planning. It is also reported to ease early diagnosis and intervention if necessary.
  • Implications for Family Members: People with FA may choose to undergo genetic testing. In this way, they can determine their carrier status. This knowledge can guide reproductive choices and contribute to a proactive approach. It aims to manage the genetic impact within families.
  • Potential for Genetic Therapies: Comprehending the genetic basis of FA opens the door to genetic therapies. Understanding the precise mechanisms of gene mutations enhances the prospects. They are vital for targeted interventions and treatment strategies.

Comprehending the intricacies of Friedreich Ataxia inheritance is vital for families and doctors. This knowledge forms the foundation for informed decision-making and genetic counseling.


Friedreich’s Ataxia Symptoms

This autosomal-recessive genetic disease manifests through a spectrum of signs. That progressively impacts various aspects of an individual’s physical and neurological well-being. In such a way, understanding the array of Friedreich’s Ataxia symptoms is essential. It is vital for early detection, diagnosis, and implementation of supportive care measures. Early signs recognition allows prompt management and supportive interventions. While there is no cure for FA, treatments focus on symptom alleviation. Also, it centers on physical therapy and addressing associated health issues. It helps enhance the overall quality of life for individuals with this disorder.

Friedreich's Ataxia Symptoms

Gait Instability and Coordination Issues

It is pivotal to know what is Friedreich Ataxia disease and its common manifestations. One distinctive early sign is gait instability and coordination issues. This hallmark feature significantly impacts the mobility and daily functioning of individuals.

Among the Key Aspects are:

  • Unsteady Gait: Individuals with FA often exhibit an unsteady gait. It is usually characterized by an abnormal and often wide-based walking pattern. This instability occurs due to the nerve tissues’ progressive degeneration in coordinating movements.
  • Balance Challenges: Coordination issues extend to balance challenges. They are making it difficult for individuals to maintain equilibrium while walking. It may increase the risk of falls, especially as the disease advances.
  • Impact on Activities of Daily Living: Gait instability and coordination problems have consequences. They affect activities of daily living such as walking, standing, and navigating stairs. As these symptoms intensify, individuals may need mobility aids for help.
  • Progressive Nature: Friedreich’s Ataxia symptoms tend to worsen over time. The degeneration of nerve tissue continues. Early recognition of gait instability and coordination issues is crucial. It is vital to initiate interventions to enhance mobility and mitigate potential complications.

There is no therapy for such autosomal-recessive genetic disease. Addressing gait instability and coordination issues involves a comprehensive approach. Physical therapy, gait training, and assistive devices such as braces or walkers can aid in maintaining mobility. They cut the impact of these manifestations on daily life. Ongoing monitoring and adjustments to the management plan are essential. They help to adapt to the evolving nature of what is Friedreich Ataxia disease and optimize the individual’s quality of life.


Speech Difficulties

Such problems represent a significant and progressive aspect of FA. They impact the communication abilities of individuals with this neurodegenerative disorder.

Among the Key Aspects are:

  1. Slurred Speech: One of the early signs of speech involvement in FA is unclear speech. Motor control and coordination deterioration affect the precise movements required for clear articulation.
  2. Articulation Challenges: Individuals may encounter challenges articulating sounds and forming words. It can result in difficulty in understanding other people. It is leading to frustration for the individual and those around them.
  3. Vocal Control Impairment: The neurological impact of FA extends to the muscles involved in vocal control. Individuals may experience pitch, tone, and volume fluctuations. They are affecting the overall quality of their voice.
  4. Impact on Daily Communication: Speech difficulties in FA have practical implications for communication. Expressing thoughts, participating in conversations, and conveying emotions become challenging. It happens because the condition progresses.

Managing these Friedreich’s Ataxia symptoms involves a multidisciplinary approach. Speech therapy is a crucial component, focusing on exercises to maintain and strengthen oral motor skills. AAC devices help to ease effective communication. They do it when language abilities are declining. They play a vital role in adapting communication strategies to meet the evolving needs of individuals with FA. Family and caregiver education is essential for fostering effective communication. They are crucial to maintaining a supportive environment, too.


Friedreich’s Ataxia Treatment Options

While treatment options for FA currently focus on symptom management. Also, they center on advancements in research that hold promise for developing targeted therapies. They aim to alter the course of the disease. Collaborative efforts are between healthcare professionals, researchers, and affected individuals. They are crucial in optimizing care and working towards improved outcomes for those living with FA.

Physical Therapy

Physical therapy is central to the comprehensive Friedreich’s Ataxia treatment. It is addressing the unique challenges posed by this progressive neurodegenerative disorder.

Among the Key Components are:

  1. Mobility Enhancement: Physical therapists design individualized exercise programs. They help to enhance mobility, focusing on improving gait, balance, and coordination. Targeted interventions help to mitigate the effects of Friedreich’s ataxia. It affects a person’s ability to move and navigate their everyday environment.
  2. Muscle Strengthening: Strengthening exercises address muscle weakness, a common symptom in FA. Targeting specific muscle groups helps individuals maintain functional strength. Also, to save independence in daily activities.
  3. Coordination Improvement: Therapists use exercises to improve coordination. Also, they help fine-tune motor skills and solve problems better. They involve tasks that require precise movements. Coordination improvement is crucial for minimizing the impact of ataxia on daily living.
  4. Balance Training: It is integral given the prevalent gait instability in FA. Therapeutic interventions focus on improving balance and reducing the risk of falls. They are contributing to increased confidence in mobility.
  5. Adaptive Techniques: Physical therapists guide adaptive techniques and assistive devices. That can ease mobility and independence. These may include recommending appropriate braces, canes, and walkers. Also, they may involve wheelchairs based on individual needs.

The essence of Friedreich’s Ataxia treatment through physical therapy lies in patient-centered access. Therapists collaborate with individuals, tailoring interventions to their unique abilities, challenges, and goals. Regular assessments and adjustments to the treatment plan are crucial as the disease progresses. Physical therapy is often part of a broader, multidisciplinary approach to FA therapy. Collaboration with other healthcare professionals includes occupational therapists and speech therapists. It ensures a holistic strategy that addresses the diverse signs and challenges.

Physical therapy session

Friedreich’s Ataxia Prognosis and Future Outlook

Predictions often involve a gradual progression of signs. They are impacting various aspects of an individual’s life. A rare and progressive neurodegenerative disorder, the prognosis is variable. The rate of deterioration varies among individuals.

Critical Aspects of Friedreich’s Ataxia Prognosis:

  • Progressive Nature: There is a progressive decline in neurological function in FA. Signs like gait instability, muscle weakness, and speech difficulties worsen.
  • Variable Presentation: The course of the disease can vary widely. Some individuals may experience a slower progression. Others may face a more rapid decline in neurological function. Factors influencing the rate of progression include age of onset and specific genetic factors.
  • Cardiac Involvement: Cardiac complications, particularly hypertrophic cardiomyopathy, contribute to the complexity of FA. Regular cardiac monitoring is essential for managing these associated health issues. It can impact the overall prognosis.
  • Quality of Life Considerations: There is currently no cure for FA. Physical, speech therapy, and supportive care measures can affect the individual’s quality of life. Managing symptoms and maintaining functional abilities are essential aspects of care.

Future Outlook:

  • Research and Therapeutic Advances: Ongoing FA research explores potential therapeutic interventions. Also, it investigates disease-modifying treatments. Advances in genetic therapies and emerging technologies promise to alter the course of the disease in the future.
  • Clinical Trials and Collaborative Efforts: They are helping shape the future of treatment for FA. These initiatives aim to uncover novel approaches to managing and slowing disease progression.
  • Patient Advocacy and Support: Patient advocacy groups and support organizations are crucial. They are vital in raising awareness, providing resources, and fostering community for individuals. These efforts contribute to a more supportive environment for those navigating the challenges of FA.

Understanding the prognosis of Friedreich’s Ataxia involves acknowledging its variable nature. Also, it includes its impact on different individuals. Current interventions focus on sign management and improving quality of life.



This autosomal-recessive genetic disease is a complex neurodegenerative disorder characterized by progressive signs. They are affecting mobility, coordination, and speech. Every patient with such a diagnosis should know, “What is Friedreich Ataxia disease?”. Such a question underscores the urgency of understanding this rare condition. It is with a variable prognosis and ongoing research exploring therapeutic avenues. Current interventions aim to enhance the quality of life for individuals affected.

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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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