Hi. I’m looking online for information about cerebellum ataxia. I was diagnosed back in May of this year. I avoid the internet when dealing with health issues. My neurologist referred me to another neurologist out of Rush University, Chicago, Illinois. I’m 49 and have been relatively healthy. I used to be a runner but injuries ended that passion. Looking back I’m surprised how long it took to get a diagnosis. I had an MRI maybe three years ago and even I without any medical training can see the black blob on the MRI. My appointment is tomorrow. Any suggestions on what I should ask? I have balance issues. I walk with a cane. The fatigue is killing me. I’m a Sign Language Interpreter and at the end of the day I pass out asleep. Sometimes through the night. I guess what I really want to know is how much longer can I keep going? Is it in my best interest to slow down or keep moving?
Doctor appointment : Hi. I’m looking online for... - Ataxia UK
Doctor appointment
Dear Jessie70, I was diagnosed with Sporadic Cerebellar Ataxia (unknown cause/progressive) at 49 years of age, although I had extremely minor symptoms starting at about 43 years of age. I'm 65 years of age now. Over the years, I had genetic testing for the more common types of (dominant and recessive) ataxia, which was always negative. I wanted to know why I had ataxia, as no one in my family, as far back as I knew, had ataxia except me! Finally, in 2017, I had genetic exome testing, as my neurologist suspected I had ARSACS (Autosomal Recessive Spastic Ataxia Charlevoix-Saganay), which is a rare form of ataxia, but my testing was negative. A single Niemann pick C (NPC) gene was found and I had a skin biopsy followed by a blood test. It was positive for NPC disease. It was ultimately determined I not only have a single NPC gene, but an unknown variant as well. Therefore, my ataxia is due to NPC disease. Mystery finally solved 20+ years later! Late/adult onset NPC disease is extremely rare! Anyway, I worked for 28 years as a social worker and finally had to retire at 53 years old due to my ataxia symptoms progressing. My neurologist says to stay as active as possible because if you don't use it, you lose it! Obviously, I can't do the athletic activities I use to do (before ataxia), like down-hill skiing or tennis, etc., but I try to exercise (safely, of course) for strength and balance daily. Yes, fatigue is a big problem for those that have ataxia. I take 300 mg of CoQ10 daily and it seems to help a bit with fatigue, so you might want to ask your neurologist about it, or any other supplements he/she recommends! Also, you may want to ask about exercises to do or if he/she recommends physical therapy. I do physical therapy/physio each year (as many visits as my health insurance will pay for) and find it helpful! Keep moving, although it's difficult/challenging! Walking is good exercise, although I prefer a two handed rollator, rather then a cane (more stability). Hope some of my answers help! if you have any other questions, please feel free to ask! My best to you..., ;o)
Good morning. Thank you for your reply! This was exactly what I wanted, information and then drive to my appointment questions in hand. I’m not making assumptions but I work with social workers daily. Have you ever worked with a terp? I’m sure anyone can appreciate the challenges we encounter everyday, mental and physical. I always lived by “move it or lose it” but I’m wondering if I should re-evaluate my profession. It’s demanding on the best of days. I love terping I hate “getting” through it. Sucks.
Dear February,
My follow up appointment is in January. I have gone downhill fast! Falling, fatigue,injuries, blah blah blah. I started working 1/2 days on Halloween. I lasted until Thanksgiving break and didn’t go back. Full disability. My question to you if you don’t mind, did you lose a significant amount of weight? My “ healthy “ weight is 155. I weighed myself today (almost everyday now because it’s bizarre ) 118.6😕
sounds very similar to my experience of late onset and now almost 77 years old. Deterioration has been very slow which means you have time to adapt at each step. I have declined further testing even for monitoring and just trying to stay positive. I am lucky to have a husband who has gradually taken over things I can no longer manage. this does mean that it is even more difficult to motivate myself to make an effort. 'Effort' rules my life.
Dear Jessie70, I have no idea what a terp is? I've never even heard that term! Please explain, as knowledge is power...,ha! ;o)
Sign Language Interpreter. Sorry. Professional hazard. Terp is what we call ourselves. Well...in Chicago Illinois 😎
Just a suggestion... my sis showed me an abstract on ncbi.gov last night titled Can hypothyroidism cause ataxia? CA may be a presenting feature of hypothyroidism, and it was suggested that CA may partially or fully be responsive to thyroxine replacement . However, the article said that there is scarce recent data on hypothyroidism causing ataxia. There are other suggestions that metabollically, low vitamin E, B12 and even gluten may contribute to ataxia. Stay positive. NAF is helping to fund lots of research. Best to you.
I have heard of AVED that is low vitamin E
Suzie
🙂 Just info for anybody who hasn’t heard of this.
Ataxia with vitamin E deficiency
Other Names: AVED; Ataxia with isolated vitamin E deficiency; Familial isolated deficiency of vitamin E
Ataxia with vitamin E deficiency (AVED) is a progressive disease affecting motor control and movement. Symptoms of AVED include slurred speech (dysarthria), difficulty coordinating movements (ataxia), numbness in the hands and feet (peripheral neuropathy), and progressive leg weakness. Some affected individuals may experience vision loss due to damage to the back of the eye (retinitis pigmentosa). Symptoms typically begin during childhood or adolescence and worsen with age, resulting in the need for a wheelchair by early adulthood. AVED is caused by a mutation to the TTPA gene. When this gene is damaged, vitamin E cannot be distributed throughout the body. Vitamin E is important because it protects the cells of the neurological system (neurons) from dangerous molecules called free radicals. AVED is inherited in an autosomal recessive manner. Treatment for AVED includes vitamin E supplements, which will prevent AVED from developing if given before symptoms begin and may reverse some neurological symptoms if begun after AVED develops.[1][2]
Last updated: 7/10/2016
AVED may be suspected in individuals who have the following findings at the beginning of puberty:[2]
Progressive ataxia
Clumsiness of the hands
Loss of the ability to know where one's body is in space (proprioception)
Absent reflexes (areflexia)
The inability to perform rapid, alternating movements (dysdiadochokinesia)
A tendency to sway or fall while standing upright with the feet together, arms stretched out and the eyes closed (positive Romberg sign)
A nodding movement of the head (titubation)
Decreased visual sharpness (acuity)
Positive Babinski sign (upward movement of the big toe and fanning of the feet after the sole of the foot has been firmly stroked)
Macular atrophy (wasting away of the cells that form the part of our eye responsible for central vision)
Retinitis pigmentosa (eye disease in which there is damage to the retina)
Laboratory studies typically show a reduced plasma vitamin E concentration but normal levels of lipoproteins (proteins that combine with and transport fat or other lipids in the blood). Other studies that may be useful include: nerve conduction studies, brain imaging, and studies of nerve tissues.[2][3]
Although no universal diagnostic guidelines are available, researchers suggest that diseases that cause fat malabsorption, such as abetalipoproteinemia should be ruled out. Genetic testing finding two TTPA gene mutations may be useful to confirm the diagnosis.[2][3]
Last updated: 11/17/2016
Testing Resources
The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Treatment
Treatment for AVED requires lifelong high dose supplementation of vitamin E. When treated early, some symptoms, such as ataxia and intellectual decline, can be reversed. In older patients, treatment may slow disease progression, but some symptoms remain.[2][3]
Research indicates that if vitamin E treatment is initiated in presymptomatic individuals with two mutations in the TTPA gene (e.g., younger sibs of an affected individual), the symptoms of AVED will not develop.[2]
Last updated: 11/17/2016
Find a Specialist
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
Healthcare Resources (For people in the US)
To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.
The National Ataxia Foundation, a nonprofit organization dedicated to improving the lives of persons affected by ataxia, provides lists of neurologists, ataxia clinics, and movement disorder clinics.
Related Diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
Differential diagnosis mainly includes Friedreich ataxia, sensory ataxic neuropathy with dysarthria and ophthalmoplegia (SANDO) and abetalipoproteinemia (see these terms). Other autosomal recessive cerebellar ataxias may be considered as well (Refsum disease, ataxia telangiectasia, Charcot-Marie-Tooth disease 1A and ataxia with oculomotor apraxia types 1 and 2 (see these terms)).
Visit the Orphanet disease page for more information.
🙂 Hashimotos Disease (Thyroid) is linked to ataxia. There are a few links online, but not much that is current
Hashimoto's associated ataxia
Selim and Drachman described six patients with a progressive sporadic adult onset cerebellar degeneration.1 Raised concentrations of antithyroid antibodies were found. Modest increases in antithyroid antibodies were considered to be the result of longstanding autoimmune thyroid disease. Analysis of CSF showed increased protein concentrations in one patient. Brain MRI disclosed atrophy of the vermis in four patients and showed a concomitant atrophy of the brain stem in two patients. Treatment with L-thyroxine did not improve cerebellar signs. The authors suggested that ataxia associated with Hashimoto's disease could be due to an autoimmune cerebellar degeneration.
This is a very interesting finding, which raises several issues for the diagnosis and management of sporadic adult onset cerebellar degeneration. I make three comments. Firstly, there is another clinical presentation of “Hashimoto's associated ataxia”,2 consisting of an acute cerebellar syndrome associated with abnormal behaviour. Protein concentrations are increased in CSF. Brain MRI shows a high intensity signal in T2 weighted images, restricted to the cerebellum. This other presentation should not be overlooked because steroids and thyroid hormonal therapy improve the cerebellar deficits markedly. This ataxic syndrome associated with Hashimoto's thyroiditis differs from the cases reported recently1 by (1) the acute onset, (2) distinct MRI findings, and (3) the dramatic clinical/radiological response to treatment which is a strong argument in favour of an immune attack against the cerebellum.
The authors should consider multiple system atrophy (MSA) in the differential diagnosis of sporadic adult onset cerebellar degeneration.3,4 Various combinations of extrapyramidal, pyramidal, cerebellar, and autonomic features occur in MSA. The disorder having an estimated prevalence ratio of 16.4/100 0005; raised concentrations of antithyroid antibodies might be a coincidence. Patient 6 exhibited cerebellar deficits associated with autonomic/urinary dysfunction, pyramidal signs (bilateral Babinski's signs), and parkinsonism (axial rigidity, hypertonia).1 Multiple system atrophy is likely in this patient. Were sphincter EMG studies performed? Were dysautonomic signs specifically looked for in other patients?
In one of our patients exhibiting a chronic and sporadic cerebellar syndrome with atrophy, high concentrations of antinuclear antibodies and presence of a rheumatoid factor were initially considered as markers of an immune disease producing a cerebellar degeneration. However, a subsequent genetic testing disclosed a spinocerebellar ataxia type 6 (SCA-6). Genetic analysis for SCA-1 to 7 was performed in one of the patients reported by Selim and Drachman,1 and was not available in the remaining five patients. Detailed genetic tests should be carried out, even when there is no family history of ataxia. Recent studies show that about 4% of patients with a sporadic ataxia harbour a mutation.6 Negative genetic results would reinforce the appealing concept of “Hashimoto's associated ataxia”.
Can you please ask your Doctor if my Mum had it,now my sister has it, I have it, my brother my sisters son and we all thought it was hereditary and got it off my Mother. (we would not have had kids if we had known) I have contacted my |Mothers side (who are German) and no ny symptoms apart from an Uncle who died in the 60s of MS. I wrote a b0ook about a programm of exercises to stop Dyspraxia (which causes Dyslexia) it was published and sells all over the world Dyspraxia is like a grown up Ataxia. I do Pilates everyday , I use a DVD which I bought from Amazon £7,99 for a lower back pain I had. They told the man who invented it he would be in a wheel chair. I still wobble but in 2 years I have increased from 10 exercises to 50. I do it ay home so no one sees me. You need to strengthen your left/right laterality and core.
Hi. Thank you for your reply. I left my appointment with scheduled tests and unanswered questions. I’m just starting this process. I was misdiagnosed for many years. I think I joined this forum too early. I have tons of questions too.
Keep going, the more you give up the worse you will get.
how certain is the diagnosis? I was diagnosed with cerebellar ataxia as I had trouble walking, balance issues and urinary incontinence. then I had a lumbar puncture and then they decided I had normal pressure hydrocephalusas I coud walk about after they had drained off some CSF. so I had ventro-peritoneal shunt put in and having gone into hospital in a wheelchair I walked out 2 days post op. I asked for a second opinion as nobody seemed to be sure what was wrong with me so it took 5 years to be diagnosed and treated- although no cure- still use a walking aid outside but back to driving etc. good luck!xx
Thank you for your reply. I saw the MRI. I’m certain it’s ataxia. I’m just starting additional testing. I was diagnosed in May of this year. I used to be athletic and clumsy. Broke my leg twice. Back issues. The list goes on and on. I’ve always taken care of myself but my balance started to be shaky. I just used my cane from when I broke my leg. I just went to work. I was always tired. That explained away my speech issues. Blah, blah, blah. I really didn’t think too much about me because I’m busy! (hope my sarcasm is coming across ) I just rapidly declined. I’m losing weight. Im exhausted. I have tests to schedule. An MRI and others. I don’t feel like getting up and looking. I know everyone is different. I know I’m just starting but how fast moving is this disease?
seems to vary a lot - everyone has a different story. but I think the genetic testing is key . the Ataxia charity has a very good DVD that showed this family of several children who had it and the walking was very similar to how I used to walk pre-shunt. I had so many different diagnoses and the best one was that it was the aging process and normal so I asked for a second opinion as I was initially referred to a rheumatologist but once I saw the senior rheumo he referred me to a neuro- it does seem to be the luck of the draw how quickly you get a definite diagnosis. I have 4 grown up children so was obviously worried if it was genetic. good luck !!xx
Dear Jessie70, I had an MRI (of my brain), EMG (nerve/muscle test) and tons of blood work done to diagnose my ataxia. My MRI showed atrophy of my cerebellum (I've had three MRI's in the past 20+ years and each showed a bit more atrophy of my cerebellum), the EMG was normal as well as the blood work (no vitamins E deficiency, etc.). Thus, I was diagnosed with Sporadic Cerebellar Ataxia (unknown cause, progressive. Over the years, I had genetic testing for the more common ataxia's, which was always negative. I didn't find out until years later (through genetic exome testing)that my ataxia was due to Niemann Pick C disease! Oh, I almost forgot, I had a sleep study also, as I was always so tired. I was diagnosed with sleep apnea, as apparently some people with ataxia can suffer from sleep apnea as well. Therefore, I've used a C-Pap machine for several years now when I sleep at night. I'm a bit less tired, although ataxia in itself causes tiredness/fatique. Anyway, although my ataxia has progressed, it's been a slow process for me. Over the years I've gone from not using any aides or having any falls to falling and using a cane (straight tip), then a quad cane(four pronged tip) or a rollator. I had a total knee replacement (in June) in one knee and I've used a rollator ever since, as I feel more secure. My hope is eventually I'll be able to get back to just using a quad cane again! Everyone is different in how quickly their ataxia progresses, depending on the type/cause of their ataxia, etc. My best to you..., ;o)
Thank you for your reply. I’m trying to wrap my head around this diagnosis. I’m grateful for this forum. Have a great day!
Mental work is just as tiring as physical work. After my event, I stopped work and concentrated on getting better until I felt able to last a careful 4hr stint followed by a rest.
Exercise is good from your toes to your eyes, twisting, turning, stretching, and bending with a little dynamic tension thrown in for good measure, spend your energy on this and reap some reward. I think you'll find running is out for the next couple of years, so don't fret, you are still young and the brain is an amazing organ. Be prepared to be amazed.
Good luck and best wishes!! stedman 211019
Hi Stedman. Thank you for your reply. I’m a sign language Interpreter. I’m always shocked when people don’t get “it” and I grew up with Deaf parents. I apologize if I make assumptions but terping is mentally and physically demanding. I don’t know what to do! I LOVE my work but I am exhausted. I’m thinking the same, slow down focus on myself. Then it’s Friday. I plan on going to the football game. I plan all kinds of things but mostly on weekends I sleep. I’ll clean something and lay down to “rest” only to be woken up HOURS later. And the really scary thing to me is that I cannot wait to go back to bed and I’m passed out until morning. Losing a lot of weight too. Any thoughts?
Hi Jessie70,
It seems to me you do not have an option if your body shuts down as it will, it is better to be horizontal than upright. If your BMI matches your stature not much to worry about weight loss, your Dr or Nurse will answer that for you. I eat 4 or 5 times a day, breakfast including fruit, Elevensis hot water with 1/4 teaspoon of sugar and a fairy cake with coconut oil, lunch a sandwich, no cheese unless well-matured cheddar followed by a nap in the recliner, mid-afternoon a Mug of hot water and two ginger biscuits for digestion, main meal 4 veg and meat or fish, all cooked with love and care to suit my taste. I do the washing up as a thank you for the wonderful meal then recline, for digestive reasons;-).
Listen to your body, talk to your Brain quietly before you go to sleep. I hope you feel good in the morning when you wake this shows you are progressing. Exercise is IMPORTANT! I have no medical training just my experience!! Good luck and sweet progress. stedman211019
Hi Stedman,
Terping is a workout. I’m fine Monday morning it’s just getting challenging. I’m frustrated because I thought I would walk out of Rush University Hospital, Chicago, Illinois with answers. She was the second neurologist I was referred to, Dr. Deborah Hall. I’m tossed into a study and I have a stack of scripts to take to my local hospital for all the tests. No answers. More questions. Honestly I’ve received more information just joining this forum. Again, something I would never do. I’m 5’9 and my weight was never an issue. I know that sounds arrogant but it’s the truth. I felt best at 155. That was when I was running 30 miles a week. Now I can barely walk around an elementary school w/o feeling EXHAUSTED! I’m now 123 and if I’m going to be completely honest I know I’ve shrunk. I have 3 children. They each took an 1/8 inch.
Hi Jessie70,
Excerpt: Listen to your body, talk to your Brain quietly before you go to sleep. I hope you feel good in the morning when you wake this shows you are progressing. Exercise is IMPORTANT! I have no medical training just my experience!! Good luck and sweet progress. stedman211019.
Tell your Brain of your problems and ask it to find and resolve them. No need to be specific.
Close your eyes, Look for your Brain from the back of your eyes, you will feel a comfortable aura lowering over your brain, now is the time for mental contact with the Brain. Be sure to rehearse your message without stops, mentally and politely. If at first, you don't succeed try again. It worked for me in the 1990s ( I know not where it came from) I have used it since and feel better for it, give it a try, nothing venture...........
wishing you success and improvement. Regards. stedman41111
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