DIAGNOSIS OF ATAXIA
Being diagnosed with Ataxia can be overwhelming. Below are a few frequently asked questions that can help you to understand ataxia better.
What is Ataxia?
The word “ataxia”, comes from the Greek word, ” a taxis” meaning “without order or incoordination”. The word ataxia means without coordination. People with ataxia have problems with coordination because parts of the nervous system that control movement and balance are affected. Ataxia may affect the fingers, hands, arms, legs, body, speech, and eye movements. The word ataxia is often used to describe a symptom of incoordination which can be associated with infections, injuries, other diseases, or degenerative changes in the central nervous system. Ataxia is also used to denote a group of specific degenerative diseases of the nervous system called the hereditary and sporadic ataxias which are the National Ataxia Foundation’s primary emphases.
How is Ataxia Diagnosed?
Diagnosis is based on a person’s medical history, family history, and a complete neurological evaluation including an MRI scan of the brain. Various blood tests may be performed to rule out other possible disorders which may present similar symptoms. Genetic blood tests are now available for some types of hereditary ataxia to confirm a diagnosis or as a predictive test to determine if someone has inherited an ataxia gene known to affect other family members.
What are Common Symptoms?
Symptoms and time of onset vary according to the type of ataxia. In fact there are often variations even within the same family with the same type of ataxia. Recessive disorders commonly cause symptoms to begin in childhood rather than adulthood. However, in recent years since genetic testing became available, it is now known the Friedreich’s ataxia has an adult onset on some occasions. Dominant ataxia often begins in the 20s or 30s or even later in life. Sometimes individuals may not show symptoms until they are in their 60s.
Typically balance and coordination are affected first. In coordination of hands, arms, and legs, and slurring of speech are other common symptoms. Walking becomes difficult and is characterized by walking with feet placed further apart to compensate for poor balance. Impaired coordination of the arms and hands affect a person’s ability to perform tasks requiring fine motor control such as writing and eating. Slow eye movements can be seen in some form of ataxia. As time goes on, ataxia can affect speech and swallowing.
The hereditary ataxias are degenerative disorders that progress over a number of years. How severe the disability will become and whether the disease will lead to death depends on type of ataxia, the age of onset of symptoms and other factors that are poorly understood at this time. Respiratory complications can be fatal in a person who is bed bound or who has severe swallowing problems. Some persons with Friedreich’s ataxia develop serious cardiac problems.
What is Sporadic Ataxia?
There is a large group of people who have symptoms of ataxia that usually begin in adulthood and who have no known family history of this disease. This is called sporadic ataxia and it can be difficult to diagnose. There are many acquired and hereditary causes of ataxia which must be ruled out before a diagnosis of sporadic ataxia can be made. Sporadic ataxia can be either “pure cerebellar” if only the cerebellum is affected or cerebellar plus, if the ataxia is accompanied by additional symptoms such a neuropathy (dysfunction of the peripheral nerves); dementia (impaired intellectual function); or weakness, rigidity, or spasticity of the muscles. Disability may be greater and progress more quickly with the cerebellar plus form of sporadic ataxia. The cerebellar plus form of sporadic ataxia is also known as sporadic olivopontocerebellar ataxia ( sporadic OPCA) or multiple system atrophy, cerebellar type (MSA-C).
Ataxia as a Symptom
For people who have ataxia as a symptom of other medical conditions such as head injury, stroke, MS, alcoholism, etc., we recommend that you contact the organization related to your specific condition for the most up-to-date and accurate information.
How do I Get More Information?
The hereditary and sporadic ataxias are a complex group of diseases and this information is but a brief overview. You are welcome to download the ataxia information sheets from this website or contact the National Ataxia Foundation for additional information on hereditary and sporadic ataxias as well as more information on the genetics involved. This information is not intended in any way to replace information you have received from your doctor(s). Please note that we cannot answer specific questions concerning your situation, recommend drugs or suggest diagnosis. Please discuss these concerns with your doctor.
#Slide 1. Friedreich’s ataxia is an inherited neuro-degenerative disease, affecting the body gradually after its onset. The patient may experience a slurred speech, blurred vision, imbalanced body movements, drunken gait, poor co-ordination and other related problems including diabetes, heart ailments etc. which often gets worse over time and may also cause early death in certain cases.
#slide 2. Talking about FA in India – the concentration of the sufferers of this disease is very low when compared to other big countries like USA and UK. And may be because of this the awareness as well as the research on the disease is almost low.
#Slide 3. SAMAG(seek a miracle ataxia group) is a private organization that was started by Chandu, an FAer from Hyderabad India with its branches in various Indian cities like Indore, Pune. The main motive of this organization is to raise awareness of FA among people and help the FAers along with rare disease patients and their families. The group members participate and also help in organizing medical camps like the DNA camp in Indore that was recently organized by AIIMS.
#Slide 6. Although there is no cure for FA yet, but the researchers and scientists have been working for years to find a cure for FA very soon.
#Slide 7. Trials are now being conducted on patients, many of which are showing a positive result. This has increased the expectancy of patients of living a better life.
#Slide 8. Here we see the research pipeline of FARA (Freidreich’s Ataxia Research Alliance). Out of all the drugs, I would like to emphasize mainly on the EPO and EPI743 by Edison pharmaceuticals as these two have successfully crossed the phase I and Are about to step into the phase III of drug trials
#Slide 9. The abnormality in the frataxin protein levels is the main cause of this disease. The EPO (Erythropoietin) drug has been found to increase the activity of frataxin gene in FA patients, and hence the effects of the is great. On the other hand EPI 743 improves the mitochondrial dysfunction that is again one of the causes of FA. Both of these drugs are well tolerated by patients.
#Slide 10. I would also like to highlight the stem cell therapy, which is carried out around various private hospitals and clinics and have shown positive results in many ailments including FA. But, as all of the patients cannot afford the big fees of this therapy, I would also like to request the doctors of the govt hospitals to make arrangements of the same at a lower cost.
#Slide 11. We want these drug trials to be initiated by the doctors and researchers in India, but the rules and regulations of the Indian Government on the clinical trials on patients is a big hindrance on the hopes of patients
#Slide 12. On behalf of all the ataxia patients, I wrote a letter to the president of India, Dr. Pranab Mukherjee last year and requested him to remove the ban imposed on drug trials in India, but got no positive response.
#Slide 13. The views of the guardians and patients suffering with ataxia were also sent to the president along with the letter where all of them have appealed the govt officials to relax the restrictions on clinical trials.
#Slide 14. We patients expect firstly from the Indian govt. to remove the restrictions on clinical trials. Secondly, we request the researchers and doctors of India and abroad to collaborate and start with clinical trials, especially the trials which are on the phase 3. Thirdly, almost everyone of us would like to volunteer for the stem cell therapy and drug trials. We have waited for long and now expect them to be started as soon as possible.
Friedreich’s ataxia is an autosomal recessive inherited disease that progressively damages the nervous system of the sufferer. As a result, the FAer experiences slurred speech, blurred vision, imbalanced gait and body movements, poor muscle co-ordination, diabetes, heart ailments and many other problems that worsen over time. An early death can also be an outcome of FA.
When talking about FA in India, the concentration of people with this disease is comparatively lower than that in the USA and UK. Moreover, the awareness about this neuro-degenerative disease is pretty low among people. However, back in 2006, Mr. Chandu Prasad George (FA sufferer) founded SAMAG- Seek A Miracle Ataxia Group, with an ambition of spreading awareness about FRDA and also support the sufferers and their families.
As far as a cure for this disease is concerned, then sadly there is no sure shot treatment available yet. However, the scientists and researchers from all over the globe have begun to work for the development of an effective treatment to fight and prevent this progressive ailment. Clinical trials of various drugs and therapies are being conducted on patients with many showing positive results.
But, no kind of drug or therapy trials are even started in India, which is demoralizing for every sufferer. Although the doctors and researchers are willing to carry out clinical trials on the patients, but they are obstructed by the restrictions imposed on clinical trials on humans by the government of India.
Last year, on behalf of all FAer’s, a letter was written to the president of India, with a request to remove the ban and allow the clinical trials to be conducted on the volunteer patients in India. But, this effort hardly accomplished any positive result.
Today again, all we patients would like to make a request from the Indian government to grant the necessary permissions to the authorized doctors and researchers who are willing to carry out the drug and therapy trials, as all of us are seeking for a miraculous treatment.
|Seek A Miracle Ataxia Group|
|Help us to share help|
|“SAMAG – Indore Chapter,M.P”|
| Awareness & Psychological
Aspects of Rare Neurological
|In Association with|
|National Brain Research Centre
|How to get Involved|
|SAMAG offers you the
option to join as………
|Sponsor a Ataxian,|
|Fund raising events &|
|Make a donation.|
|Work done by Indore Chapter|
|International Ataxia Awareness Day at Indore in 2007|
|Work done by Indore Chapter|
|Meeting at Bharat Vikas Parishad Sewa Nyas, Indore|
|Work done by Indore Chapter|
|Ataxia Awareness Meeting at Indore 2010|
|Work done by Indore Chapter|
|Handicap Certificate & Railway Concession Certificate Distribution
Programme in association with Bharat Vikas Parishad Sewa Nyas,
|Work done by Indore Chapter|
| Medical Checkup & DNA Blood Sample Collection Camp in
association with AIMS Delhi & Bharat Vikas Parishad Sewa Nyas,
|Work done by Indore Chapter|
|Physiotherapy Camp & DNA Test Report Distribution in Association
with Bharat Vikas Parishad Sewa Nyas, Indore
|Work done by Indore Chapter|
|Participated in 27th Annual Meeting of SNCI & International
Conference on Recent Advances in Molecular Mechanisms of
Neurological Disorders at AIIMS, New Delhi
|Work done by Indore Chapter|
|HELP US TO SHARE HELP|
Report of Ataxia Awareness meeting held on Sept 23,2007 –
For raising Ataxia awareness a meeting was organized by SAMAG , Indore chapter on 23rd Sept 2007 at neurology department of M.Y. Hospital, Indore. Neurologist,Physiotheraist,Doctors,Social Groups and Ataxia patients attended the meeting.
Eminent neurologist Dr.Apoorva Pauraik addressed the meeting. In hi talk he explained about ataxia.He said that there are different types of ataxia and noe a das diagnostic tests are available to detact many types of ataxia. He emphasized that although there is no cure of ataxia till now, the patients should be encouraged for DNA testing to confirm type of ataxia because categorization and classification is the basic requirement for further research .He added that because the disease is progressive and makes the patient completely dependent in course of time , there is urgent need of researches to find cure of ataxia.
Expert Neuro-Physiotherapist , Dr.Deepak Nair , from Arbindo medical college demonstrated physiotherapy exercises useful for ataxia patient. He said that if cerebellum is not properly functioning through practice it is possible to transfer its function to some other part of brain. His speech was a hope to ataxia patients loosing co-ordination and balance .
In the end Ms, Swasti wagh ,President of SAMAG-Indore Chapter , spoke about self help group SAMAG(Seek A Miracle-Ataxia Group) which is registered in Hyderabad by an Ataxia patient Mr.Chandu George. She appealed society to come forward to support the activities of SAMAG for the welfare of ataxia patients.
Report ot Ataxia Awareness seminar by (SEEK A MIRACLE ATAXIA GROUP) Indore Chapter, on 21/02/2010 :
SAMAG ; Seek A Miracle-Ataxia Group , organized a seminar on Ataxia on 21st feb 2010 at Naath Mandir , Indore , India .
Eminent Neuro-physician ,Physiotherapist , Speech therapist , clinical optometrist and around 20 Ataxia patients from Indore and around participated in the seminar . The seminar began with the recitation of the poem written by Sunder , an ataxia patient
Neuro-physician Dr. Apoorva Pauranik emphasized the need of preparing a database of the patients to facilitate research activities on Ataxia .Physiotherapist Dr.Deepak Nair (Arvin do Hosp. , Indore) informed about the physiotherapy equipment designed byhis students under his guidance , which will activate spinal cord centers to improve co-ordination . The equipment is under fabrication and soon will be ready for experimentation. Speech therapist Dr. Siddheshwar Pandey (Arvindo Hosp , Indore) adviced patients about their speech problems . Clinical optometrist Shri Mukul Gadewadikar (Bombay Hosp , Indore) talked about the eye problems associated with Ataxia and how to take care of it . Physiotherapist Dr. Sudhir Kothari (Chouthram Hosp , Indore) demonstrated a number of simple physiotherapy exercises using the common things available at every house .Ms. Swasti Wagh , president Indore Chapter of SAMAG spoke about aims and objectives of SAMAG .
REPORT OF MEDICAL CHECK-UP CAMP ON 18/09/2010 :
SAMAG – Indore chapter organized a free medical checkup camp for Ataxia patients on 18 th sept 2010 at Sampurna Diagnostic Clinic .Dr. Kiran Jekab and Dr. Abhishek rathore of M.Y. Hospital examined all Ataxia patients under guidance of Dr. Apoorva Pauranik (M.D.,D.M. ,Neurophysician , M.Y. Hospital , Indore , M.P.) .A team of Ph.D.student of Dr.M.R. Rajeshwari (M.Sc., M.Phil., Ph.D., Department of Biochemistry, AIIMS,Dehli), Mr.Vishnu Prasad and Mr. Deepak Kumar , from AIIMS , Dehli came to collect blood samples of Ataxia patients in camp .The D.N.A. Test for confirmation of Ataxia will be performed at AIIMS ,Dehli . The D.N.A. investigation benefits the research in Ataxia and will help in finding the possible cure of Ataxia .
SAMAG-Indore chapter expresses heartiest thanx to Dr.Rajeshwari and her Ph.D. student Mr.Vishnu Swarup and Mr. Deepak Kumar from AIIMS , Delhi and Dr.Apoorva Pauranik and his collegue Dr.Kiran and Dr.Abhishek of Neurology Deptt. Of M.Y. Hospital , Indore for clinical examination of Ataxia patients.We are very much thankful to Dr.Sodhani of Sampurna Diagnostic Clinic for accommodating the cap activity in their campus We are also thankful to CHL Apollo , Indore for permitting the use of their Centrifuge and cold storage .
Lastly SAMAG is greatful to SEVA branch of Bharat Vikas Parishad for extending help and co-opration in arranging this camp.
Report of Physiotherapy Camp on 9/04/2014:
SAMAG-Indore Chapter organized physiotherapy camp with the help of Bharat Vikas Parishad , Indore at Sputnik Bhavan,Press Complex,Indore on 9th April 2014.
In the camp Dr.Apoorva Pauranik distributed DNA test reports from AIIMS,Delhi to ataxia patients.
Dr.Pankaj Jain , neuro-physiotherapist from Rajasthan advised physiotherapy exercises suitable to ataxia patients.
Report of Brain Awareness Camp on Rare Diseases And Key Psychological Issues of Caregivers on 1/03/2015:
An awareness camp on rare diseases was organised by Seek a Miracle Ataxia Group
(S.A.M.A.G) in association with National Brain Research Centre (N.B.R.C) in Indore on 1st March 2015. The camp was attended by over 100 people and arranged at Nath Mandir,Indore. The participants included patients of MS, MD, Ataxia and spinal injury, caretakers and general public.
Ms. Swasti Wagh,President – SAMAG,Indore Chapter,inaugurated the camp by addressing the audience.
Dr. Apoorva Puranik
One of the key speakers of the event, Dr. Apurv Puranik is a well known neurologist
based in Indore. He emphasised on the need of awareness and education of rare
diseases among the population . his speech also stressed the need of skill development of the especially abled. He also encouraged public to think about starting and helping sheltered workshops in India to help the patients of rare diseases .
Mrs. Tapati RoyYadav
A psychologist by profession, Ms.Tapati’s speech focussed on the nature of psychology and what basically goes through the minds of patients and caretakers specially.
Mr. Prathmesh Desai
National Secretary, Viklanga Sahayata Seva of Bharat Vikas Parishad, Mr. Desai gave an insight to the programs they have conducted and upcoming for specially abled patients.
Mrs. Kirti Dike
Mrs. Kirti heads the women’s division of Lions Club Indore. She shared the problems
and issues she faced with her daughter who is suffering from spinal bipedia . She motivated all the care givers and family of patients by giving examples from her experiences .
A quiz competition was organised for all the participants. The questionnare and answer sheet were distributed along with the registration kit. Top three scorers were given prizes.
I am Vilas Shinde. Who is suffering from an ATAXIA from last Ten plus year. As the subject tells this email is regarding the purchase of Paper bags made by Vilas to sustain his lively hood (would saymore than to earning few hundred here is a struggle to live dignified life in this challenging period of ours).
Attached are the few images of paper bags, its dimensions are ~23.5 cm X 25 cm (width x length) the last two pictures have the sticker saying this paper bag is made from ATAXIA patient.
Till last month Vilas used to earn 1000 rupees by selling 500 bags, costing 2 rupees per bag but the lone customer said they are having difficult time selling these bags and hence cannot purchase from this month onwards. Vilas is writing with utmost humbleness that your organization will fill this void left by lone customer by marketing the handmade paper bags.
Hoping to hear you positively from you on his earnest appeal.
I am also attaching the article appeared on sept month ‘Golden sparrow’ weekly magazine dated 22 Sept’14, page 11 on Vilas story and fight with ATAXIA. Please do read this and reach him at the earliest.
942 073 1096
For last 15 years of ataxia awareness and support to patients of ataxia swasti wagh was awarded by Indian government speaker swasti being an fa ataxia ptnt she n her parents from indore are very active and voluntarily doing this noble work
their families have ever coordinated and organized several çamp ffor years medical care of atzxàns n blood test dna check diagnosed ataxia also gave moral n mental strength to ataxians gui dedicated how to fight ataxia n still planning to oorrganize nayional level campaign on dna research n drug trials on different type of ataxia for future or nxt new generation so dey dont suffer ss we did
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Youngest members of Ataxia Awareness Group, 6 year old Riya and 9 year old Sanjay, flanked by their mothers cut the cake on occasion of International Ataxia Awareness Day…. God bless them… It is an incurable, degenerative, neurological condition which … Continue reading