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

SUZIE's picture

cerebellar atrophy/ataxia - HELP

Hi I was wondering if there is a support group in new Zealand for cerebellar atrophy / ataxia. I'm 49 year old female with this and diagnosed three years ago I can walk a little, my balance is getting worse = my head js grinding all the time, as for lying down is hard/ sleeping. I feel so alone in this and down.

Serendip Visitor's picture

Hi Suzie... please do not

Hi Suzie... please do not feel down - my father suffers from the same condition - what part of NZ do you live in?

Misti Ann Stagl's picture

Ataxia?

Though I've seen many Dr. and had many tests not one has said ataxia to me,I know I have some kind of cerebellar ataxia. It has been progressing over the last 11 years, I could feel something happening......started with nystagmas and bouts of vertigo so random I had to stop driving it got so scary! At that time I was 37 years old I will be 50 this year. It progressed slowly I still worked full time still walked though I seemed to lose my balance more often and became terrified of heights and wide spaces. I had 2 children {in 2004 and 2007],2008 things started to speed up. Had to stop working and now I can not walk with out a walker I can still do it carefully indoors,but outside forget it! Short distance [house to car] I can hold onto someone but long distances no way...........I can not find a walker that works with my issues well I actually have to walk with a jogging stroller to get better outdoor traction but I have to weigh it down because it is to lite. Any body have any ideas? My nystagmas and dizziness are so bad any more it is really difficult to walk at all, and my hips and legs are starting to ache. I don't know where to get help my Neurologist keeps throwing up his hands and saying "not sure" I have had tons of MRI'S and autoimmune blood test but zip! HELP!!! please I still have to get around my kids depend on me!

Serendip Visitor's picture

I can relate to what are expeiencing

I started to experience many of the symptoms you describe in 2012. There are actually some rare moments in the morning where I have no symptoms and I pray a miracle has happened. But the time is short lived and all the symptoms you describe come back again. I think I am going to put a plastic chair in the walk in shower because it is becoming to dangerous to shampoo my hair and close my eyes. I have caught myself to many times almost falling through the shower curtain. A career change maybe happening soon because I have trouble lining up my screw driver to take off/on panel screws on copiers. When I sign documentation I must concentrate very hard to move the pen correctly with my hand. Pushing my PIN at an ATM has become difficult because I can't steady my finger and sometimes push two numbers. There are times I just laugh it off, but more and more I feel like crying in frustration. My 4 and 5 year old miss out because the fear of picking them up and falling over. Hang in there sister, I feel your pain

Misti Ann Stagl's picture

Ataxia?

Are you see a Dr. or anything? Mine throw their arms up so not sure what to do know. The worst is the kids they really do miss out on so much. I can not find a walker that is all terrain any ideas?

Serendip Visitor's picture

ataxia

i cai n n i have seen doctors walk for long i loose my ballence can any one help

Serendip Visitor's picture

Stem Cell therapy

Hi there! I just read your comment and I am contacting Hope Hospital in China where they offer stem cell therapy for patients all over the world. I talked to Simon Lee, hope this helps!

kavita patange's picture

SCA 2

Hi, I am kavita from Mumbai, India. My husband is suffering from SCA 2 from last 14 years. He is also take alopathy, homeopathy and ayurvedic medicines. We follows the doctors directions. But not have any improvement in his he8

Serendip Visitor carrie's picture

Ataxia

Hi everyone feeling kind of better knowing this is not only in my family. This goes back as far as my 42 year mind can remember. My great grandfather on my mother side use to walk as if he was drunk and I heard people call it the drunk man disease. As I study my granddad hewalked the same now my ggrandfather has two other brother's and a sister that staggers when she walk and then comes my mother hers came in her late thirties and my aunt her sister in her thirties and then I have to boy cousin's that also have ataxia and they are young there's started when they were 10 are so. What I'm saying is that females in my family are attacked in the middle age and the boys in their younger hope I helped you. God bless.

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 .

Mike Hansen's picture

test confirms

I was referred to the Mayo clinic by my neurologist and was tested by the Mayo clinic in 2002. was told I have cerebellar Ataxia Type 3. MY mom had it and my brother 3 years younger than me has it also, but my mother and brother were not genetically tested.

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?

Mike Hansen's picture

downhill

I was diagnosed in 2002 with cerebellar ataxia type 3 in 2002 by the Mayo clinic. In April 2012 my wife and I celibrated our 10 year wedding anniversary by going to Vegas for the first time. I could walk around with a cane at that time. We enjoyed it so much we took 4 of our 6 kids in August of 2012 just 4 months later and I had to use a wheelchair to go on long distances. I now have an electric scooter to travel with as I can't walk long distances anymore. Carrying a half full glass across the kitchen is an acclomplishment.

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

william spruill, Serendip Visitor's picture

going down fast, addendum

I received note of comment, and realized that I have already replied. This is an addendum. I am now waiting for DNA test results. My neuro. did not want to go to this extent. We had some meaningful arguments. One arguement was that it was expensive and not covered by insurance (medicare). The cost is $1,000 which I am ready to pay. Reasearch shows standards for medicare coverage and I have requested same. If turned down, I can appeal that decision, but I think I will be accepted. The principle is that a SCREENIG test (without a specific exxceptipon) is not paid. HOWEVER, a DIAGNOSTIC reason will be covered. The lab, Athena Lab, accepts the application and forwards the request for payment (You get three options: 1. to agree to pay if ins. rejects, and to seek further appeal; 2. if payment is rejected, to accept that without appeal; 3. to withdraw the request. Medicare will send a form where you may give your rational as to why payment should be made. I have sent this, but do not have an answer yet. I made the arguement that the test is for diagnostic purposes, and not for screening. If rejected, I can appeal. Meanwhile, I am told, that the test is running, but may take about 65 days!? I am waiting with about 60 days to go.

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.

Mike Hansen's picture

results ?

Raymond,
I am also a 46 year old male who was diagnosed in 2002 by the Mayo clinic. My sca3 is defective which means I have cerebellar ataxia type 3. My mother and brother who is 3 years younger than I am have it also. My mother passed away in April 2010. I am curious what you found out?

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

Mike Hansen's picture

Ataxia

Misti,
Sounds like cerebellar Ataxia. Hit me up.

Misti Ann Stagl's picture

Ataxia?

Yes I think so too,but not getting any answers from Docs....................never said the word ataxia to me I have done my own research for years I need answers! My particular balance issues combined with the increasing vertigo and nystagmas are making it impossible to get around I use a jogging stroller becouse a regular walker is not good enough for outdoor use and does not offer enough support I have to weigh down the stroller because it is not heavy enough. Even this is getting difficult but I am unable to find a walker that works with my condition. Do you have any ideas? What about Dr. any ideas about that?

william spruill, Serendip Visitor's picture

ataxia?

Hello. I seem to have trouble processing an entry on this site. This is my second try. I have some"ideas". Are you in the U.S.? Are you on medicare? Do you have insurance? Do you have a primary care M.D.? you need to go to your Primary and discuss the problem. Take some brief article on this disease even though they probally won't look at them. You start by getting an appointment with a neurologist. Here you will get what I call a "field test". Very brief and lab blood (about 5 vials). He/she may then set the next appointment (about two months). While waiting, call back after about two weeks and ask if the labs are back. When they are, go and get a copy of your file, including any report. (you get to know what they are thinking.) Pay very close attention to the thyroid results. You want to know the TSH (thyroid stimulating hormone) reading is and also the T4 (free thyroxine) is. Do some research; it is tricky. Learn the lab normal parrameters for each and what year scales are used (they changed recently). In a nutshell: the pituitary signals for the TSH production to get the thyroid to produce moreT. a LOWE t signals hypothyroidism (low; generally weight gain). (I have high TSH and low T, so my thyroid is not answering the call, I just got onto a thyroid med.-no results but I have never had a weight problem. A friend got his balance aided after his thyroid meds helprd. I am hopeful. Anyway, the neuro may order an EMG which gives a small shock to ID the nerve at issue. No result of use on mine. The heuros will want to say it is peripheral neuropothy (avoids a DNA test).
However, SCA also involve the brain (cerebellum) which is in the central division.
About SCA: technically "ataxia" is the condition observation and is not a malady. Rather it what happens to you from the spinocerebella misfunction. Further diagnosis depends upon the DNA analysis. (Getting insurance to cover that is a problem. (I weote about this in another reply.) I will send you my review if you wish. My Email is: blspruill@cox.net
About the cart: why don't you check some markets. any source that I have would be for lighter rollers. You might contact team Hoyt. That is an athletic group that has a healthy pusher with a challenged partner in the cart. The cart could be heavy enough, but you could add wright.

Misti Ann Stagl's picture

Ataxia?

Though I've seen many Dr. and had many tests not one has said ataxia to me,I know I have some kind of cerebellar ataxia. It has been progressing over the last 11 years, I could feel something happening......started with nystagmas and bouts of vertigo so random I had to stop driving it got so scary! At that time I was 37 years old I will be 50 this year. It progressed slowly I still worked full time still walked though I seemed to lose my balance more often and became terrified of heights and wide spaces. I had 2 children {in 2004 and 2007],2008 things started to speed up. Had to stop working and now I can not walk with out a walker I can still do it carefully indoors,but outside forget it! Short distance [house to car] I can hold onto someone but long distances no way...........I can not find a walker that works with my issues well I actually have to walk with a jogging stroller to get better outdoor traction but I have to weigh it down because it is to lite. Any body have any ideas? My nystagmas and dizziness are so bad any more it is really difficult to walk at all, and my hips and legs are starting to ache. I don't know where to get help my Neurologist keeps throwing up his hands and saying "not sure" I have had tons of MRI'S and autoimmune blood test but zip! HELP!!! please I still have to get around my kids depend on me!
I do have a primary Dr who just wants to keep sending me back to the same
I live in Sarasota, Fl and I do have medicare I have asked my Dr's about the thyroid and they say it's ok,but I keep hearing that it is really hard to say just from a simple CBC/BBC. By the way they did find a small node on my Pituitary they said it's nothing.....................I am really finding it quite difficult to find a Dr that will "LISTEN" to me I mean REALLY listen. Thank you so much for writing to me I feel like someone is finally listening to me!!!!!!

My email is - mististu@gmail.com I would definitely like to see your report and here more about what you are doing and what I should do,how are you getting Dr's to listen?

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.

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