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Friedreich Ataxia

friedreich ataxia

Friedreich’s Ataxia is one of the rarest hereditary neurological disorders, the first signs of which begin between the ages of 5 and 15 years. Ataxia debuts with the awkwardness of movement, then unsteadiness and uncertainty while walking, and by adolescence or early twenties, patients need wheelchairs. Speech usually becomes slurred. For the disease to manifest in a child, a specific defective gene must be inherited from both parents (autosomal recessive inheritance). Other symptoms that may also present include curvature of the spine (scoliosis), deformity of the foot (high concave arch), and heart disease, which is the immediate cause of death in 60% of patients. There is no effective cure for Friedreich Ataxia. Clinical and laboratory studies are not very indicative of the progression of the disease, and this, in turn, makes it difficult to interpret the results of clinical trials.

Antioxidants are thought to reduce cell damage by “free radicals”. Antioxidants are found in small amounts in foods. Recent studies have shown conflicting results on the effects on the heart of idebenone, coenzyme Q10, and vitamin E in Friedreich’s Ataxia, measured as a decrease in the thickness of the interventricular septum (the common wall for the left and right ventricles) and left ventricular mass (the left ventricle is the main chamber of the heart that responds for blood circulation throughout the body).

ataxia 2

Ataxia Symptoms and Prognosis

Symptoms

Symptoms usually appear in the first and second decades of life, rarely in the third and fourth decades.

  • Uncertainty
  • Staggering
  • Stumbling when walking
  • Frequent falls
  • Violation of handwriting due to tremor
  • Dysarthria
  • Weakness in the legs
  • Hearing impairment
  • Tendon and periosteal reflexes (primarily Achilles and knee reflexes) disappear
  • Rheumatic heart disease can sometimes be an early symptom
  • Patients do not perform the calcaneal knee test, swaying appears in the Romberg position, which increases when the eyes are closed
  • Deep sensitivity is disturbed
  • Muscle atrophy increases. At the initial stages, it is more pronounced on the lower extremities; with the course of the disease, it also captures the upper ones
  • Total areflexia is formed
  • The optic nerve atrophies
  • A cataract develops, leading to blindness
  • The function of the pelvic organs is impaired
  • Dementia develops (neurological disorders)
  • Endocrine disorders: diabetes mellitus, hypogonadism, infantilism, ovarian dysfunction. Cardiomyopathy;
  • Skeletal deformities: the curvature of the spine, kyphoscoliosis, “Friedreich’s foot” (high concave arch of the foot with overextension of the fingers in the main phalanges and flexion in the distal ones), deformity of the fingers and toes, clubfoot.

Prognosis

The prognosis of Friedreich Ataxia is more favorable in women: 100% of women and only 63% of men live more than 20 years from the onset of the disease; 50% of patients do not live up to 35 years. The disease is steadily progressing and leads to profound disability, but the rates of progression are different:

  • sometimes patients stop walking for several years; 
  • in other cases, they retain the ability to move and self-care for a long time;
  • dysfunction of the pelvic organs sometimes appears in patients with a long-term current disease. In most cases, the intelligence of patients with this disease is not affected;
  • the cause of death is often progressive cardiomyopathy.

diagnostics of ataxia

Diagnostics of Friedreich Ataxia 

Computed tomography of the brain, which remains the primary diagnosis of Friedreich Ataxia in this disease, is ineffective because it detects changes only in the later stages. It is possible to detect only a weak degree of cerebellar atrophy at an early stage and atrophy of the hemispheres, expansion of the stem cisterns, lateral ventricles, and subarachnoid space of both hemispheres at later stages. 

  1. Early diagnosis of Friedreich’s ataxia is made using MRI, which makes it possible to detect spinal cord atrophy and a decrease in the transverse size of the spinal cord, especially increasing caudally at the expanded stage, and moderate atrophy of the pons, cerebellum, and medulla oblongata. 
  2. At the initial stage, an electrophysiological study is necessarily carried out; with such studies, the severity of damage to the sensitivity of the nerves of the limbs is established. The electroneuromyographic pattern characteristic of this disease is the absence or significant decrease in the amplitude of the action potentials of the sensory nerves of the extremities, with a relatively small decrease in the speed of impulse conduction along the motor nerves. 
  3. For a complete diagnosis, load tests of glucose tolerance are performed (to exclude diabetes mellitus), an X-ray examination of the spine. 
  4. On the ECG, rhythm disturbance, inversion of the tooth, changes in conduction, with echocardiography, conduction disturbances, up to complete blockade, and hypertrophy of the interventricular septum are especially often noted. 

In some cases, the clinical and electrocardiographic symptoms of heart disease sometimes precede the appearance of neurological disorders by several years. Patients are observed for a long time by a cardiologist or a local therapist, most often with a diagnosis of rheumatic heart disease. To assess mitochondrial disorders using the cytochemical method, it seems most appropriate to determine the activity of lymphocyte dehydrogenase enzymes.

treatment of ataxia

Treatment and prevention of Friedreich Ataxia

Friedreich Ataxia treatment does not lead to complete recovery, but timely prevention makes it possible to avoid many symptoms and complications developing. 

  1. To slow the progression of the disease, mitochondrial drugs, antioxidants, and other drugs are prescribed that reduce the accumulation of iron in the mitochondria. The general principle of treatment with these drugs is the combined prescription of drugs that synergistically affect different levels of energy metabolism. 
  2. It is recommended to simultaneously prescribe at least three drugs from the first three groups (drugs that increase the activity of the respiratory chain of mitochondria, cofactors of enzyme reactions of energy metabolism, antioxidants). 
  3. Prescribed antioxidants such as vitamins A and E, as well as a synthetic substitute for coenzyme Q 10 – idebenone, which inhibits the neurodegenerative process and the development of hypertrophic cardiomyopathy. 
  4. Usually, drugs are prescribed that improve myocardial metabolism: riboxin, cocarboxylase, preductal, etc. 5-hydroxy profan is also prescribed, which gives good results but requires further research. Generally, treatment is symptomatic, aimed at symptoms such as diabetes mellitus and diseases of the cardiovascular system. 
  5. General strengthening treatment (vitamins) and drugs affecting tissue metabolism are carried out, the treatment of which should be periodically repeated. 
  6. Surgical correction of the feet and the introduction of botulinum toxin into the spastic muscles are also performed. Physiotherapy and physiotherapy exercises are procedures without which Friedreich Ataxia treatment is most often ineffective. Constant exercises make it possible to keep the body in good shape and eliminate painful sensations. Children with FA can stay active for as long as possible with physical therapy and corrective exercise programs that should focus on training muscle balance and strength. With this exercise program, cardiomyopathy does not develop. 
  7. Patients feel better when limiting carbohydrates in food to 10g / kg since their high consumption is a kind of “provocation” that enhances the defect in energy metabolism. Patients need social adaptation, as many have to live in a state of complete helplessness. Loss of vision, the ability to move independently, and impaired coordination create neurological disorders that must be eliminated with the help of specialists.

Hopefully, all this information was useful for you. Take care of yourself.

FAQ

  • What kind of disease can be a cerebellar attack?

Friedreich Ataxia is a disease with impaired coordination of movements, which makes it difficult to smoothly and accurately perform them, is caused by pathological processes that lead to damage to the cerebellum (cerebellar ataxia) or afferent pathways that conduct deep sensitivity at the level of peripheral nerves or the posterior columns of the spinal cord.

  • What is cerebellar failure?

Movement coordination disorder (MCD) is a disorder of the processes of coordination of muscle activity when performing motor tasks. One of the forms of NCD is ataxia. The condition is observed with damage to the cerebellum, frontal lobes, pathways of proprioceptive (deep) sensitivity.

  • How to identify Friedreich Ataxia?

A patient with ataxia syndrome cannot walk fully, falls to the side, staggers falls sideways, or backward. Also, the disease is characterized by wide movements: large steps, a wide range of arms when walking.

  • Can alcohol cause Friedreich Ataxia?

Yes, scientists have found out how alcohol and tobacco affect the cerebellum – the brain region responsible for the coordination of movements, balance, and muscle tone. According to a study published in the journal Alcoholism: Clinical and Experimental Research, alcohol dependence causes a decrease in the volume of the cerebellum.

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Lone Star Neurology
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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 prepared.read 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 together.read 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 business.read 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 cookies.read 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 there.read 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 treatment.read 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 finish.read 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 stars.read 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 staff.read 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 treatment.read 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 doctor.read 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 solutions.read 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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