I'm Not Drunk, I Have Ataxia

Claire Ceriani's picture

Muscular dystrophy and multiple sclerosis are probably the two most well-known movement disorders.  As a result, they have received a lot of research funding, enabling medicine to move closer to finding effective treatments and cures.  There is a movement disorder, however, that is just as serious, but often neglected.  Ataxia is a movement disorder that makes patients’ lives extremely difficult, yet is unheard of by many people.  As a result, research into treatments is significantly far behind.  Awareness of ataxia must be increased in order to drive the research that will improve the lives of its sufferers.
 

The word ataxia comes from the Greek “a taxis,” meaning “without order” (1).  Ataxia is a disease in which a person’s movement is uncoordinated.  The severity varies from case to case, but all forms of ataxia are characterized by difficulty in controlling balance and movement.  The most obvious symptom of ataxia is an unbalanced gait that often gives people the appearance of being intoxicated.  People with the condition often walk with their feet further apart than is typical in what is clinically called a “broadened base” (2) to compensate for poor balance.  Ataxia may also affect the coordination of the hands and fingers, resulting in poor fine motor skills such as writing.  Speech may be slurred and eye movements may be slower than normal, leading many people to believe that people with ataxia are mentally retarded.  More sever forms of ataxia may cause serious swallowing and respiratory problems (1).
 

Ataxia may be caused by infections, injuries, or genetic factors that cause degenerative changes in the central nervous system.  Those forms caused by disease or injury are known as sporadic ataxia and are not very common.  The more usual forms of ataxia are hereditary and may be either dominant or recessive.  The relevant genes are located on autosomal chromosomes and so affect males and females equally.  Dominantly inherited ataxias are usually less severe, and most people do not show symptoms until their twenties or thirties, or even as late as their sixties.  Recessively inherited ataxias, such as Friedreich’s Ataxia (FA), are more serious and usually begin during childhood.  They are more degenerative than dominant and sporadic ataxias and are more likely to lead to death.  FA in particular is associated with serious cardiac problems (1).
 

All forms of ataxia affect the cerebellum, the part of the brain controlling balance and coordination.  Ataxias that are pure cerebellar only affect balance and coordination.  Some forms may also affect the basal ganglia and the spinal cord.  These forms are referred to as cerebellar plus ataxia or spinocerebellar ataxia and may cause neuropathy (dysfunction of the peripheral nervous system), dementia, weakness, rigidity, and spasticity (1).
 

Until fairly recently, ataxia was thought to be strictly a movement disorder.  Further studies have shown that more advanced cases may have cognitive and emotional effects.  The cerebellum, once thought to deal solely with movement, is now understood to be involved in many processes within the brain.  It contains more neurons than the rest of the brain combined, and processes information faster than any other part of the brain.  It is connected to the cerebral cortex by an estimated forty million nerve fibers, receiving information from sensory, motor, cognitive, language, and emotional areas (3).  In addition to motor functions, the cerebellum helps control skilled mental performance, sensory acquisition, discrimination and categorization, tracking, prediction, and task sequences (4).  As a result, any damage to the cerebellum may result in impaired memory of newly learned information and procedures, and problems with “executive functions” such as planning and keeping thoughts in the proper order.  Patients may also experience an increase in irritability, anxiety, and depression (2).
 

The part of the cerebellum most affected by ataxia is the layer of Purkinje cells.  Each fold or “folium” of the cerebellum can be separated into three layers, the middle of which is made up of large, flat neurons called Purkinje cells.  These cells are essential for relaying information within the cerebellum.  They have highly branched dendrites that receive hundreds of thousands of inhibitory and excitatory impulses to process.  Their myelinated axons extend through the white matter to synapse with the central nuclei of the cerebellum, the only cortical neurons to do so.  They are responsible for processing efferent impulses from the motor cortex (5).  It is when these cells die or become damaged that the cerebellum is unable to function properly.
 

Drug treatments do exist for ataxia, but they have been largely unsuccessful so far.  A few forms of ataxia are linked to deficiencies of vitamin E and coenzyme Q10.  Drug treatments have proven effective for these types, but such ataxias are very rare and less serious than the more prevalent ones (2).  Amantadine has been shown to slow the progress of ataxia in some people and to increase energy levels, though the results do not appear to apply to the entire ataxia population (2).  In addition, GABAergic agents may reduce cerebellar tremors, but are not effective for treating ataxia symptoms as a whole (2).
 

Genetic studies have brought further insight into the causes of hereditary ataxia, but are still a long way from developing treatments.  In 1993, the first gene, Spinocerebellar Ataxia Type 1, or SCA-1, was identified by researchers at the University of Minnesota and Baylor College of Medicine.  This gene is linked to certain dominant forms of ataxia.  Located on chromosome six, this particular gene appears to cause ataxia when repetitions of the CAG codon are above forty (6).  More repetitions are linked to earlier onset.  Genes through SCA-28 have been found since then, suggesting that it may take the combined influence of several genes to trigger the onset of ataxia (1).  Fewer genes have been discovered for recessive ataxia, though one has been found that suggests treatment possibilities for FA.
 

In one study, a number of proteins linked to ataxia were tagged.  Many of these proteins revealed cellular pathways that may lead to Purkinje cell death if misfolded due to genetic mutations (7).  Another study successfully reactivated the frataxin gene in a cell culture, a gene that is often deactivated in patients with FA (8).  Though this is still a long way from a cure, this achievement suggests that it may be possible to use a virus vector in stem cells or to develop a pill that will reactivate the frataxin gene in people with FA.
 

The area of research that currently holds the most promise is the controversial idea of stem cells.  If it were possible to grow new cerebellar neurons, particularly Purkinje cells, it would be possible to treat all forms of ataxia.  Unfortunately, viable neurons have not been successful grown from adult stem cells.  Embryonic stem cells have to ability to differentiate into any type of cell, but adult stem cells have more limited capabilities.  Ethical concerns hold back much of the research on embryonic stem cells, so more focus is on adult stem cells.  Stem cells do exist within the adult hippocampus which, given the proper chemical signal, can differentiate into different types of neurons, however the chemical signal for Purkinje cells in not currently known.  Purkinje cells develop when the embryo is roughly ten days old and do not typically develop any more after that, making it very difficult to force adult stem cells to differentiate into them (1).
 

Another problem is that stem cells must be genetically similar to the host to prevent rejection.  One solution is to use cells from a sibling, specifically cord blood from an infant, which is full of stem cells, but there is only a one in four chance that the major immune determinant genes will be the same (9).  The better, though more controversial, method is therapeutic cloning.  In this procedure, the patient’s DNA is transferred to one of her own egg cells (or his or her mother’s).  This egg is then grown as a “synthetic embryo” and harvested for stem cells (9).  The problem is that the cells would still have the original mutation, and, with the exception of the frataxin gene, it is not yet known how to correct these mutations.  This is an area that must be further explored before a cure can be created.
 

Stem cell research has given way to a still experimental treatment for one type of ataxia.  In 2005, Angie McDonald, a sufferer of FA, underwent the first stem cell treatment for ataxia (10).  The treatment consisted of injecting stem cells from umbilical cords into the bloodstream and the base of the skull.  Though the procedure did not eliminate her symptoms, it did decrease their severity and gave her more energy.  In an interview with BBC news a year later, she said the effects were wearing off, but she planned to receive another treatment (11).  Though this is still very new and by no means a cure, it may be possible in the coming years that more forms of ataxia will at least be treatable by this method.
 

Research on ataxia is highly under-funded as most governments place it low on the priority list.  Very few people have even heard of the disease, including many medical professionals.  Though the disease in uncommon (approximately 15,000 Americans have it (1)), it is much more prevalent than was once believed.  Many people have been misdiagnosed by their physicians, because it is so often forgotten as a possibility.  Because of the ignorance of the public, many people with ataxia suffer prejudice.  The unbalanced gait of ataxia gives people the appearance of being drunk.  Police officers often do not accept ataxia as a valid reason for failing motor control tests, because so few have heard of it.  Many people with ataxia must wear medical alert tags to prove that they actually have a medical condition (12).  Children in particular suffer from the stigmas of ataxia.  Since it so often goes undiagnosed in children, they may be scolded for sloppy handwriting and clumsiness mistaken for carelessness.
 

In order to educate the public about ataxia and the importance of research, International Ataxia Awareness Day (13) was created.  This day, September 25th, is intended to teach people about ataxia and to encourage them to donate to ataxia research.  Nearly all research done on ataxia so far has been funded by volunteers, because governments give so little support.  Volunteers are also needed to donate money for specialized computers, communications and mobility aids, and home adaptations.
 

Ataxia needs to be recognized for the serious disease it is.  More effort should be made to educate the public about this condition.  Emphasis on this disease will help encourage donations to support research on an often neglected illness that is, nevertheless, still a serious problem for many people.  As stem cell research progresses, more ways are found to use adult stem cells, rather than embryonic stem cells.  This research must continue so that safe, ethical treatments and cures can be developed for this debilitating disease.

Web Resources
1. http://www.ataxia.org/; National Ataxia Foundation official website

2. http://www.hopkinsneuro.org/disease_and_condition_detail.cfm?condition_id=59; Ataxia, Johns Hopkins website

3. http://www.newhorizons.org/neuro/leiner.htm; “The Treasure at the Bottom of the Brain” by Henrietta C. Leiner and Alan L. Leiner, New Horizons for Learning

4. http://thalamus.wustl.edu/course/cerebell.html; Basal Ganglia and Cerebellum, Neuroscience Tutorial from the Washington University School of Medicine

5. http://www.bioeng.auckland.ac.nz/anatml/anatml/database/cells/cells/parts/part/part_28.html; Body Part—Purkinje Cell, The University of Auckland: Bioengineering Institute

6. http://www.euro-ataxia.org/newsletter/eanews04.pdf; Euro-Ataxia Newsletter No. 4, www.euro-ataxia.org

7. http://www.ninds.nih.gov/news_and_events/news_articles/news_article_ataxia_interactome.htm; “Organized Protein Network Discovered in the Ataxias” by Paul Girolami, National Institute of Neurological Disorders and Stroke

8. http://www.physorg.com/news75390393.html; “Researchers reverse Friedreich’s Ataxia defect in cell culture” from August 21 2006, www.physorg.com

9. http://www.ataxia.org.uk/publications_and_pictures/stem_cells.pdf; “Stem Cell Research and Ataxia” by Prof. Bob Williamson of the University of Melbourne, www.ataxia.org.uk

10. http://news.bbc.co.uk/2/hi/uk_news/england/merseyside/4527744.stm; “Ataxia sufferer’s stem cell hope,” BBC News 14 December 2005

11. http://news.bbc.co.uk/2/hi/uk_news/england/merseyside/6188905.stm; “Stem cell patient plans for more,” BBC News 18 December 2006

12. http://www.fortnet.org/fapg/drunk.htm; Are You Drunk?, personal stories of people with ataxia

13. http://www.ataxiaawarenessday.org/; Ataxia Awareness Day official website

Comments

santhi k's picture

Can I inherit hte disorder

My mom shows the symptoms of SCA1 at the age of 33 years, she is suffering from this disease for last 11 years, now my age was 24 years can i inherit the disease?? I just want to go for a test...
Because i am always in a dilemma whether i inherit the disease or not....
If any precautions are there please let me know.

Thanks in advance.

Rachel Serendip Visitor's picture

Hi everyone. Ataxia runs in

Hi everyone. Ataxia runs in my family. Nanny, mom and my oldest and younger brother all have been diagnosed with this disease. The doctor I saw doesn't think I show signs but we did not to any real tests. I'm not sure what kind of ataxia it is as we are not to close with our mother and oldest brother now and the doctors my youngest brother was seeing here in Ontario Canada basically told him they couldn't waste more money trying to find out. I just want to know if they is anything any drugs that could help him at all. If feel so helpless and he' tries not to show how depressed he is but he is. His symptoms are not that bad yet but my other family with it pretty much can't walk at all anymore. If anyone knows of anything I can ask the doctors about I would love to know. My father and I are still praying for a cure

den's picture

unbalance

After a flared up left cheek two years ago due to a gum infection and shortly after it returned to normal after a dose of antiobiotics I suffered from a hearing loss in my left ear.
That was followed by a visit to the doctor and beining diagnosed with vertigo due to a couple of falls I had experienceid.
Now suddenly I have had many episodes of losing my ability to navigate stairs both up and down and walking across open spaces.
I was diagnosed with inner ear damage as I now have tinnitus.
Typical example of last episode
Arrived at work 9am
Felt 99%
Then @ 10.15 sudden pulse to head and felt if iwas going to fall but got back to my desk.
After 3 hours felt good to
go down stairs to canteen for refrIeshment.
Reachead top of stairs, looked down, panicked and turned back.
I couldent work out how I was going to walk down the stairs.
I also froze 3 feet from my desk chair not knowing how I was to traverse that 3 feet without falling.

Theresa's picture

IVIG (Intravenous Immunoglobulin)

Hi everyone,

Theresa (from South Africa) here again. As mentioned in my initial mail I was put on a "cocktail" to try and see if that "helped in any way, however I am 'pleased" to note that two of my tablets have been stopped - 'no need' as they did not make a difference, however I am still on Azilect and Symmetral tabs. I'd like to know whether any of you, of if you know of anyone, who has Ataxia and has had the IVIG treatmemt.

Please let me know.

Many thanks,

Kind Regards

Theresa

Clarence Mini's picture

Yes it has been genetically

Yes it has been genetically confirmed as cerebullar ataxia.

Jenn's picture

Help

I had a brain tumor (astrocytomas)and meningitis in 1976.I also have ataxia, think it's cerebullar ..I want to know if I could go to a doctor and get a proper diagnosis .

KirstenMac's picture

reply.

you can go to a genetics consultant and get a blood test to see if you have cerebullar ataxia, that's what my dad suffers from and i have the option to get tested this way as well.

Clarence Mini's picture

Cure/Treatment for Ataxia

My sister who lives in Port Elizabeth in South Africa lost a husband to Ataxia. Now both her 41 year old daughter and 39 year old son suffer from it. We are keen to know about anyone around P E who can help with the latest information about this illness.

Theresa's picture

Treatment for Ataxia

Hi Clarence,

There is no cure for any form of Ataxia AS YET! We all (I'm sure - all of us who have this "blessing" in our lives) pray that more funding will be granted by our Govenrments towards find a cure for THIS as well. However, I believe there are some medications on the market that can assist one - depending on the Neurologist that one sees. For instance, I am taking Azilect and Symmetral which are definitely helping. Of course there have been a lot of changes I have had to make in my lifestyle, like no high heels - even the low ones, which causes me to feel unstable etc etc.

My advice to your sister would be to find a very good Neurologist, and see what he can do.

God Bless!

Theresa

Verjinder's picture

Ataxia

Hi Theresa,

I have now been diagnosed with SCA for 2 years but they still dont know which type. How has the medication worked for you, in what way?

I am really unsteady on my feet. Would this help?

Theresa's picture

SCA Type 1

Hi Verjinder, as mentioned before I am on Azilect (1 a day) and Symmetral 100 (3 a day). According to my family & friends I appear to have a much better gait than that of my relatives who have this disease. The. Blood test done on me showed exactly which type I have. Hope your Neuro can help you. Kind regards.

Dana's picture

going down fast!

Don't have an official diagnosis yet. Just researching some things concerning my father-in-law's symptoms. Ataxia seems to cover most of his symptoms. However, he has deteriorated SOOO FAST! I mean, within weeks, then days even. He has gone from stumbling around and walking with cane at Christmas (one month ago) to a wheelchair and unable to hold a glass without spilling.
He has been diagnosed with periphanal neuoropathy but this seems more severe. Can anyone suggest anything? Has anyone else seen a drastic change in a very short period of time?

Theresa's picture

GOING DOWN FAST!

Hi Dana,

Has your father-in-law been tested for Ataxia as yet? If not, it may be a start to finding out what exactly is wrong with him. Whilst neuropathy does making things worse, perhaps if he is correctly diagnosed, they may have some medication that could assist him. I have been diagnosed with SCA Type 1, and my neurologist is treating my imbalnce witha treatment for Parkinsons, and by the Grace of God, it seems to be helping. Of sourse, I've had to make a changes, like slowing down when walking or doing things, wearing low-heeled shoes, but it's helped. It may be a good idea to start off with him being tested for Ataxia. Good Luck, Theresa.

william spruill Serendip Visitor's picture

going down fast

My sincere sympathy. That is the same as mine except that mine is very slow. I went a long time(3yrs.) before being refered to a neurologist. I did not get in for three weeks; four more weeks before getting an EMG; and now I'm told to come back in two months. The neurologist will only say that I have peripheral neuropothy. They took 5 vials of blood the first time, and 4 vials the second time. I know that peripheral is nerves on the extremities as opposed to central which involves the spine and back. Under an american neuropothy assn. web, I found that there are some 28 different types. They label it spinocerebellar ataxia. They also list short symptoms for each. From the web, I have also been given advice to label each treatment and result that I get. I am now planning to revisit my neuroligist's office to get copies of all tests already made. I advise that you do the same. Accurate records may be important later. I also know that many just don't get a straight opinion. Bill Spruill

quest's picture

I have mailed you about my

I have mailed you about my condition.but it is not reflecting in your group.

quest's picture

spino cerebellar ataxia

Hi friends..I have 26 years.I have been suffering from spino cerebellar ataxia(I don't know which type) for 3 years.This is genetical disorder to me.But nobody in our family had this disease.I am unable to walk,difficulty while climbing steps and unsurfaced areas.I am looking like drunken person.But I never drink.Previously nobody was identified my problem.slight variation in my walk.I used allopathy,homeopathy and ayurveda.But no result.I have attacked by jerks over abdomen 6 months ago due to ataxia.Doctors told that these are the common symptoms observed in ataxia patients.By using the medicines for jerks my condition is worsening than before.I am falling down frequently..now I am continuing my medicine.Even though there is no change in my condition.Is there any cure or treatment for sca?how can I control my balance ?

william spruill Serendip Visitor's picture

ataxia symptoms

I am 79 years age. I have exercized all my life and have excellent dietary and health patterns and diagnostic values. I have run several marathons, including Boston. I have also done cycling events and triathlons, but not the Ironman. I am generally in a 80 percentile of national records. I am well versed in dietary elements regarding calories, protiens, carbohydrates, and fats. A few years back, I sort of stumbled into the nurse at my pers. physian office. I excused myself with an offhand comment to the effect that that sort of thing was rather normal for me --which it was. The Dr. seemed concerned. He gave me some quick field tests and noted that the results were not good for me. He sent me to a neurologist. I had several tests including Xrays and MRIs. Everythig was normal except a filled right maxilary sinus. I went to an ottolaryngeologist for that. I also went to a clinic and a chiropractor for balance rehab. Well, nothing of consquence was discovered. I have continued to be seen seeking to identify my problem which is only getting worse. I can no longer ride a bike. I am now well behind my old competitors, and my attempts at racewalking, which started trying, is poor enough to be disqualified. I really don't mind the poor performance, but I now use a cane most of the time, and I am scarred of falling. Speaking of falling, I was puting out the trash, and fell in the driveway causing me to knock out a front tooth. I told my Dr. about it and we tried more tests. The real problem was that I had a very short blackout during the fall, and though I felt the impact, I had no memmory of the actual fall. Further, the result showed that I had not taken any defensive measures. So, with everything getting worse, I feel it is more than an aging thing. I was doing some personal investigation and came upon your site. I will make a copy and try to get back on a trail of seeking some improvement. I will be back with results. I am encouraged.

asha's picture

medical research in ataxia

Good morning, thanks to everyone for their helpful comments. I would be grateful for any information on whether cigarette deterrent drugs helps improve gait in ataxia..category not known.asha

Malcolm Albert's picture

Genetic cerebellar ataxia

I am a60 year old male. I have had the condition since about 12 but wasn't diagnosed until my late 20's. It was wrongly diagnosed as epilepsy at first. With my condition I am missing gene 19. The condition is heredity and is passed down the male line. My brother has it, 3 of his sons, my son seems to have it as well as his son. We all suffer the same symptons of slurred speech and giddiness as though we are drunk. Our condition is controlled by Diamox. I know what they mean when they say that most medical people don't know anything about the condition because everytime you see a different doctor they ask about medication and then you have to explain everything to him. It is a pain in the posterior but hey you get on with life the best way you can because people don't understand.

Aida A.'s picture

life now is different

I was recently diagnosed with (SCA type 2) spino cerebral ataxia type 2, but I been living with the condition for quite bit. Last year I stop walking properly so I stop going to school. My life has totally change. My speech, walk and eye sight are worsening.
I still have faith that things will get better.

tonyabrtn's picture

ataxia

I am sorry to hear what you are going through.my brother in law has Ataxia and he is having trouble getting any treatment for it all .he can not walk or perform task on his own with out his wifes help.he is trying to get into mayo clinic but still no answer.he has throat cancer and when he lost his motor skills then they found the cancer and treated it.but since he has not had any luck with much other.How are you now?and have you been under any treatment.i may not be back to this site much but my email is and I am on facebook tonya Watkins burton.thank you very much for any info

Inga's picture

sorry how sudden this can be

I am sorry your life has totally changed, I understand. It is hard when you have to give up all that you knew and relearn life. How long did it take to get a diagnonisis ? all I seem to keep getting is "best guess" diagnosis from the doctors I have seen. It seems they don't want to do the tests ? like since the MRI and CT of head and neck are looking good to them there is no need to test further. I just dont get it.

Inga

tonyabrtn's picture

ataxia

my brother n law is going through the same thing.his testing has stopped and mostly do to Medicaid refuseing to pay or approve.he is getting worse with each day.i am looking for any kind of info or answers.it has been 7 months and his wife has done everything but beg on her knees.have you received anymore help?

Serendip Visitor's picture

ataxia

I went to a similar experience. after a year of testing, finally the diagnosis came out. CSA type 2. I stoped walking and my life change. Now I am on dissability.

Serendip Visitor's picture

dna blood test for sca type ??

find a neurologist who treats balance problems. Athena health will do dna test for sca type??

Bonnie's picture

I was given every test my

I was given every test my neurologist could think of. Athena Labs only came up with a positive for ataxia. I started with tripping, walking forward with the inability to stop, leaning into whomever I was walking with, and finally being unable to walk. When it all started I went to physical therapy. It helped with my strength, but even with balance exercises I eventually lost my ability to walk. I can walk short distances with assistance, mostly from the house to the car or into a restaurant. At one point my doctor was going to insert a shunt to drain the cerebrospinal fluid, but decided not to. From what I've read so far there is no cure. I'm just trying to learn to live with it, but I still have hope. Good luck

Serendip Visitor's picture

ataxia.

I'm male and 46. MRI of moderate cerebeller atrophy. Nuerologists examination is FA but awaiting blood results in 3 weeks.

I have had walking problems for 15 years, live in a major city but GP's where unable to get an answer for me. I have no upper body coordination issues but i can not walk outside anymore without holding on to my wifes hand.

There are many many poor people suffering this condition much worse than myself, but i saw the nuerologist only a few weeks ago and still processing the news.

I am tring to stay calm.

Peace to you all.

Raymond.

Misti Ann Stagl's picture

Ataxia

Raymond.............This is me totally,only difference is I am female. I got all the blood tests.................passed them all,went to an ENT got all the balance tests they could think of......again ziltch! They are trying me on Ativan to see if that will help, its not been helping so far, I also have Nystagmas. I do not drive anymore because of "dizzy spells" that come and go. I can not walk outside without help I had to get a stroller to push when my husband or someone isn't around. Pushing a childless stroller may look strange but falling would be worse. Even with assistance I still walk as if I am drunk but so far I have no choice no one can tell me whats wrong with me!

Keep lookin on your end and I
ll keep lookin on my end and maybe together we will find an answer!! :-)

Misti

Sere66's picture

I walked through all that

I walked through all that nightmare until I went to Dr. Ashizawa in Gainsville , Florida..he actually described some types of SCA and they will take care of you; in my experience , unless you are already very deteriorated most neurologist do not know how to explore initial symptoms and so they do not request genetic testing as they are very expensive . You have to visit him. Best luck and God bless all of us and our children

Inga's picture

Post Viral ataxia ? really ? I am so confused and depressed

last month ( I woke up on May 27th like this) I saw a Neurologist who said his "best guess' was that I had Post Viral ataxia. Really ? our family (we have 4 children from age 11 to age 2 ) Everyone had influenza and about/almost 2 weeks after all was done (I got it last) I came down with ataxia. I am not buying it. The neurologist seemed to think I would not need the appointment we have scheduled for tomorrow and yet, I do need it. I still can not drive, still have good days and bad days. this is going to cause a 16 year marriage to end fast. HELP !

Crystal's picture

Maybe???

I typed in Drunk symptoms and this came up. My Grandpa, mom, brother and I suffer what we call "dumb moments" They are episodes that hit usually when our heart rate is up-when we're excercising, or just having fun. My brother plays football. When he feels the episode coming on-heavy arms/legs, feet feel like concrete and no matter how hard you try to put one foot in front of the other, you can't do anything but collapse. It's so scary because everyone is standing over you asking you questions, and you go to talk and you know what you want to say, but you can't because your words are slurred and you sound ridiculous!

I used to play Roller Derby, but I couldn't be flying around the rink on skates and the episode hits and all I could do in a panic was fall. It's so scary and I usually get really emotional because of how embarrassing and horrifying it is. I can't go to the gym, can't do triathalons, I can't even play volleyball at work on my lunch break. I just sit on the sidelines when I know it's going to hit. These episodes hit the worst after my period. I don't know why. My mom thinks it's hormone related, but why does my brother have the same thing? My mom hasn't suffered from an episode since she hit her late 40's. So she thinks menopause helped her. But what will happen for my brother? I have tried Anxiety pills they don't do much, and my husband tries to understand, but he doesn't get it. No one understands how horrible these are. I am missing out on so much that I want to do. Should I start with an MRI and heart Dr? The episodes hit when I am excercising-not always, but at least 2-3 weeks a month I have to be really careful, I can feel them coming on because my arms feel heavy and if I try to walk, I get wobbly. Would anyone here in Washington State have suggestions on who to go to? Thank you

Theresa's picture

Spino Cerrebllar Ataxia Type 1

Hello Everyone, . I am a 58 year old female living in South Africa, and was diagnosed with SCA Type 1 last October ’12. Unfortunately, in my case it is genetic. We can trace it back to my maternal grandmother’s brother who had it (he was the only one to have it - although at the time not much was known about the disease and only from the symptoms that he presented, is it being presumed that he had SCA), and 3 of his 6 children had it. My grandmother didn’t have it nor did any of her children – 7, but it has manifested itself in the families of 3 of her children, my mother and her 2 older brothers. Whilst our parent didn’t have SCA, each of my uncles have lost 3 children each to SCA, and my mother has lost one already – my eldest brother. I now have an older brother who was diagnosed with SCA +/- 5years ago, and last year I was.

I am so happy to have found an online `SCA family’ to share my fears with. I was referred to a Neurologist by my Diabetic Specialist because I started having a problem with pain/burning feet and my doctor thought that Neuropathy was starting to develop in my feet. However she did know my family history of SCA as well and recommended that I be tested for it. Luckily my medical aid did pay for the genetic testing. On receiving the results I asked that particular neurologist what the way forward was and his response was; “there’s no known treatment, and no known cure. This is an incurable disease and all we can do is monitor the shrinking of the brain annually by way of an MRI”.

That’s not what I wanted to hear, nor did my immediate or extended family. Everyone started phoning or asking around, and we found another Neurologist, a much younger person who appeared to be far more clued up on new developments in the Neurological field (apparently he is among the Top 10 Neurologists in South Africa). I visited him in November last year, he did confirm the diagnosis and also the statement about the treatment and cure for SCA, however he did say that there was medication “out in the market” that could help with the stumbling/instability/shaking and also help with the memory. It was just a matter of getting “the right cocktail”.

I have been on a “cocktail” of Azilect, Symmetral, Integral and Livifem (which I take at different times during the day), and it seems to be working (please God I ask). I have seen how people looked at my eldest brother and thought that he was drunk, and even when he spoke. It’s now happening to the other. That is my fear, how will I handle it.

My apologies for “loading” all this on you guys, and I hope you’ll understand that I just need to “speak” with people who understand when I am and coming from. I'm so "glad" to have found a support group where this topic is discussed openly. I can't seem to find any on;ine support group in SA. Many thanks, and God Bless!

Serendip Visitor's picture

Name of neurologist

Hi Theresa,

Please could I have the name of the neurologist you saw, my mom is in the same situation as you in South Arica. Thanks so much.

Theresa's picture

I'm not drunk, I have Ataxia

Hi,

The name of the Neurologist is a Professor Girish Modi at The Brenthurst Clinic in Johannesburg. He is excellent , and hope he is able to help your mother.

Good Luck, Theresa

Philip Toal's picture

Walking with Ataxia

Please have a look at Dr. Tom Clouse in his -walking with Ataxia- homepage.
It has been a wealth of encouragement to me and it can help our balance.
He pits this against what he and we have been told in the past.
He does not claim to disprove the physical facts,but rather the mental aspects that are associated with Ataxia, hardly elaborated upon by the "medical experts" through their sheer ignorance and that of the public at large, doubtless.

Kate's picture

Paraxsmal cerebrial ataxia Type 2

I'm a 43 year old New Zealander. I have had bouts of ataxia, slurred speech, slowed brain function, vision problems, nausea and terrible fatigue on and off for years. They are now more frequent and last longer. Work is being great and have been holding my job for me since August last year, but I can't shake off these symptoms. Some days I don't have ataxia, but experience problems with my vision, nausea and fatigue. Then the ataxia hits and I'm a wobbly mess for weeks. I need a walking stick to get around and can't walk very far at all. I appear to be getting worse. My neurologist has diagnosed me with PCA type 2. I take 500 mg of acetazolamide a day. I'm going to lose my job soon. The neurologists can't tell me what's going to happen to me long term. Will i continue to get worse? How much worse will it get? What's the future like for me? Will I ever be able to work? Should I try taking more 'ace' pills? NZ is a small country and even my dr knows of no support groups in NZ. Is there anyone out there who can answer my questions? I need to know what my future holds. Is there a chance I'll get better? Please help.

Serendip Visitor's picture

PCA Type 2

Hi Kate
I just wanted to touch base with you as I'm another Kiwi, as yet undiagnosed, but with strong suspicion of EA2, possibly set off by non Celiac gluten sensitivity. Are you able to tell me which Neurologist you've been seeing as there don't seem to be too many in NZ who know much about ataxia.

Michelle DeCiantis's picture

diagnosis and symptoms

Kate, I first wanted to say, I know how it feels thinking you are all alone out there with your symptoms and diagnosis. 13 yrs. ago when my symptoms hit full force, there was not social networking and I felt the same way. First I would like to say, the name your doctor gave you for your ataxia, I had never heard of, so I had to look it up. In this case, PAROXYSMAL he is using to describe the episodes (occurrence of symptoms). The actual name for this is EPISODIC Ataxia Type 2. And you must have episodes of vertigo (dizziness) because that is what the acetazolamide is for. I first want you to realize you are NOT alone. There first is a website: www.ataxia.org and this is the NATIONAL Ataxia Foundation, the only NATIONAL organization I know of. There is a large amount of information there on ataxia, organizations that provide different services etc. You can become a member and receive a copy of the generations magazine 4 times a year the updates events and medical research. Next there are a few face book pages (not sure you are on face book) But this is the online source of support groups most of us use to talk and exchange information as well as giving one another support in all of our lives ups and downs. There is the National Ataxia Foundation group page, Ataxia Girls page, And a few other. Regarding your symptoms, what to expect etc. this is difficult. We all share a similarity in our group of symptoms, regardless of the type of ataxia we have. However even if we have the exact same dx, such as the few people who have EPISODIC Ataxia type 2. Each person is different in how they will progress, and what they are capable of doing. There are some who barely experience any symptoms or they are very mild and others who are in wheelchairs. I would suggest if you have been off work that long, you consider applying for disability benefits (not sure what that is in NZ) also I will try to locate dr. referals and other people who live in NZ to connect you to. I hope this has helped you some.

Kate's picture

Thank you

Thank you so much Michelle. You have made my day! I will contact the web site you mentioned. I have a neurologist appointment tomorrow and the only thing I can think of is to ask to be put on more acetozolamide. I take 500 mg, do you know if people have had success increasing this dose? I also take calcium now as the 'ace' pills apparently leach calcium out of your system. Any idea how much calcium I should take? My neurologist isn't a young man and he has only ever had one other patient with episodic ataxia Type 2. I would love to get in touch with any other kiwis who have this condition, so thank you for looking into this. I am on a sickness benefit and have to keep sending them medical certificates every 3 months. It is starting to look as though I won't work again and I cry every time I think of it. I love my job and providing for my daughter. If I can't work, what will I do with my life? Sorry, I not in a good place right now. And I'm getting tired of people watching me as I stagger down the aisle at Pak'n'Save. I often use a chair because I am REALLY slow when I walk and I tire very quickly. Thanks again mate.
Kate

Michelle DeCiantis's picture

No problem

Kate,
No need to thank me. Trust me 99% of the wonderful people I have met online in the face book Ataxia Community are wonderful and we all understand the devastation of one, being diagnosed, then loosing our independence, that every aspect of our lives are altered simply due to the symptoms. I don't want to discourage you at all, It is my job to say positive and encourage, JUST ask everyone about me when you sign on the face book pages :-) they will also tell you I am a talker. If you can go and join the Face book page, National Ataxia Foundation group page first, then request me as a friend (Michelle Gail DeCiantis) I can then invite you to our Girls page (which is the Best one of all! -my opinion). Also it will afford you the ability to post a small introduction of yourself, tell them I referred you there (almost every person knows me) Tell them your dx EA type 2. You will see how fast you get responses to your post, and those with that type will eventually read it and respond it. And before long you will feel you have just added to your family. Once on the girls page and the cyber ataxia group page (i go to those two the most), before long you are gonna develop some of the best friendships you have ever had. As far as your work, trust me I know.. I was/am a single mom, my daughter Anissa is 24 now. And I was a nurse, I always wanted to be, and it took a lot of years and struggles to finally finish school and pass state boards. So when time came and I was finally nursing, I LOVED IT. But when the symptoms were bad enough for me to go to dr. and I could no longer work. It was one of the first and many moments I felt crushed. You see what most do not realize, Ataxia does not just effect the cerebellum. And it is not just a movement disorder or in-coordination of movements. And this in-coordination of movements, arms, legs, body alone causes us to readjust every single activity of living. As it progresses, most of which is slow. However, these daily activities, which most take for granted. Is major for us. I recall I was always a pretty quick mover in everything and a bit of OCD (obsessive compulsive disorder) tendencies with neatness and cleanliness. SO always picking up or cleaning something. Just the fact that, I had to slow down was so HARD. Anyhow, take all of these adjustments we have to make in our own lives, which in turn effect others who are around us. Top that off with other things, like some of us have pain (mine is severe chronic NEUROGENIC Pain in both legs from hips to toes. I'll give you definition of and explain that later, a very unique pain to "us') Or some have bad nystigmas THE uncontrolled rapid eye movements (i don't have this, other vision problems for me) any how those added symptoms put more of a hindrance on what and how we do things.
You need to join these social networking sites in order to keep sane. No matter how much love you have from close friends and family (Because I and many others do) they cannot, no matter how they try, understand, and we need support of those who do know and understand. I promise when you get on the face book pages you will start to feel better. I do know some ppl spoke of the increase in their azt (that's my abbreviation) but you will find answers to that there as well. As far as the calcium, if you increase the azt you will have to adjust the calcium accordingly. I will have to double check on dosages for you to be sure. There are some other vitamins and supplements that you should be taking. Now the dosages you will have to play around with until you start to feel better. These are in general what I know Many of us take and that I have for a long time, also recommended by my Specialist. CO Q10, Omega fatty acids, B complex ,and B12 extra, D3 Oh shoot I am gonna wait til I get home and check mine, don't memorize them all with the doses and I want to make sure I give you the correct information. This is the brain FOG or what I call my brain farts. Try to see if you can at least get on the NAF face book page today. I don't check this very often, sometimes go months. But I am on fb everyday. Or you can write me directly to my email- that way i will be sure not to miss any msgs from you. Have a Bright Day Love, and keep spirits up You have many to connect with and we will support and uplift, educate and help in anyway we can.
talk to you soon- Michelle

quest's picture

hi Michelle..how are you?how

hi Michelle..how are you?how is your health now? I am new to this site.I am vexed with this ataxia.Because I should take care of my parents.But in reverse..they are taking care of me.I am using the medicines what you are prescribed in your mail.But no result.While searchin for cure,I saw this website and joined here.If there is any medicine/treatment for getting better improvement please inform me and I will also inform to our friends who are suffering from this disease.

Mary Peabody's picture

kids w/SCA 8

Hi - I have 2 kids ( girl, 17 and son 11) w SCA8. They have been symptomatic since birth with developmental, emotional and physical involvement. I guess because it was such a broad presentatioin of symptoms that the MD looked at everything but Ataxia for 16 years, when we finally got a diagnosis on both (2011).

Anyone out there w/ children affected by SCA8? Also- we do not know where it came from genetically yet- very weird..

Serendip Visitor's picture

Kids with SCA8

Hello, we also have two children, 7 and almost 5 who have had symptoms of SCA8 since birth. Our oldest was diagnosed at the age of two and our other son when he was one. We also have a two year old daughter who is not affected. My husband is the carrier, but we had no idea until our oldest got a diagnosis. I would love to know more about your children's symptoms, tests, and how they finally got their diagnosis, and I have no problem sharing what our kids have been through either. Hopefully you'll get this since you posted in March and it's now October!

Thanks,

Christina

Mary Beth Peabody's picture

SCA8 kids

HI Christina=

I almost blew your email into the trash because I have not been back to that site since I wrote, I think.... SO glad that I did not.

It is hard to know where to begin-

My two have the symptoms of SCA 8- but then there is a "plus" which no one has been able to put a finger on. They have significant global delays, yet are super intelligent and sweet. My 11 YO son also has more neurological/behavioral involvement- Not exactly epilepsy, but outrageous uncontrollable tantrums and night terrors ( he is still asleep) which are controlled through seizure medication. We treat them with a very complex hybrid of western medicine-- just to keep in touch with the research world, and pulmonary care, but the most actually results we have gotten from a wide variety of alternative treatments to include: neuro-chiropracty, manual therapy w a PT, Craniosacral work, accupuncture. You get the idea.... It is my more than full time job.
Our 18 yr old daughter, Hannah , is now at a Waldorf residential school for the developmentally disabled, part of the Camphill comunities.
SHe is really thriving there, and has remained healthy thus far. Our son Asa is in our public school, but the course of his disease has taken him down a different path. He has less obvious ataxia symptoms ( fewer repeats), but ( perhaps part of that unknown "plus") fatigues very easily. He comes home from school before lunch and sleeps up to 3 hrs in the afternoon- Maybe he is just making up for lost time!! He is just getting over the first sinus/ bronchitis infection of the year, and hopefully we have dodged the pneumonia bullet.

We are located in VERY rural northern adirondacks of NYS- So most medical care- traditional or non- is no less than a 2 hr drive, and most often is 5 hrs to boston or 3 to dartmouth hitchcock. We even flew to UNiv Fl gainesville last spring to be part of a genetic ataxia study w/ Dr Laura Ranem , who discovered the SCA8 gene. That was quite a trip for all of us. In a way , it was most significant for our 16 r old ( "normal"!!!) daughter who has not been as involved in the care of her siblings- No , thats not true. SHe is very active in their lives, but never saw herself as potentially linked to them via this condition. She could possibly be affected but asymptomatic....

Wow- We could talk for days, I think. You are the first SCA 8 family w affected ( and unaffected) children that I have heard of .. SO glad you responded.
I would love to keep having email communication or speak on the phone. Let me know what works for you-

Keep the faith!

Mary Beth

miguel's picture

hederitary spinal cerebellar ataxia

Hi, Im a 27 yr old male diagnosed with spinal cerebellar ataxia 6 yrs ago.. I suffered from seizures at 15 and dr.'s thought it was just epilepsy but as the years progressed it beggan affecting my reflects and movement.. I tried to tell dr.s there was a bigger issue but it was ignored. my eye's began to feel shaky 2 years ago and today my vision feels like the camera man on a cops chase seen. beside's that I have a constant loud high pitch noise in my ear that feels like tinnitus and hearing loss.. am I going deaf too? I am confined to me bed... when will the story end!!

Poss22 's picture

Cerebellar Ataxia

I Have read all the stories on this blog and all of them sound the same as mine. About 3 years ago i was diagnosed with cerebellar ataxia .I am now 44 years old raising two children all alone. I know how you all feel about people thinking that you are drunk. I live in a small town where everybody is got to be nosy. Just the other day i carried my two children out to a restaurant where they sale alcohol. I do not drink, but some nosy people called the police on me and i got stopped, which scared my two children to death. The officer had informed me that he had a call that i had been drinking around my kids because the callers had said they had seen my two children get in the truck with me and i appeared to be intoxicated. Lucky i had the receipt of what we had to eat and drink or he would have carried me to jail because i told him that i knew i could not pass a field sub. test.
I guess my Question for anyone that may be able to help me is,are there any treatments out there that has helped anyone,and are there any Doctors that that specialize in in the field of ataxia?
When i was diagnosed with ataxia my nero told me that he was sorry but i had maybe 8 years before i would be in a wheel chair and that there was nothing he could do for me. My first reaction after he said that was i was very angry and i knew what a cancer patient felt like. But anyways i have been fighting this stupid disease for over 3 years now with my symptoms getting worse.
If anyone has any suggestions feel free to e-mail me at Thank you very much and God bless everyone

Sere66's picture

SCA5

Does anyone have SCA 5?

nick's picture

yes i have it for 3 years now

yes i have it for 3 years now

Sere66's picture

SCA 5

I just got diagnostic but my symptoms started 3 years ago at age 43 with a lot of oscilations ...I would like to know how you feel and if you are taking something helpful; Thank you and best of all

Philip Toal's picture

Hi all. I´m 64 and live on my

Hi all.
I´m 64 and live on my own here in Germany. I and a brother back in Ireland acquired it from my mother`s side.
I have no friends, suffer the daily abuse of falling / injuring myself. I used to feel lonely. I´m moving to Portugal later in the year, and who knows, I may meet some warm people. Humor is what helps me with a less serious and relaxed lifestyle, which is in short supply here, with or without Ataxia.

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