Diagnosis

Did a bit of checking this and that on the web.  This is what I have found (still on the trail of slow progression dysautonomia and dance/creativity.  Well there might be something in being overly flexible.  I'll set up a poll on idcircle to see if we can get some numbers on how many of us have hyperflexible joints (2 out of 5 in test section below). My notes as usual in bright blue.

At best it might put the brakes on excessive and pointless testing.

clinical features

In the syndromic forms of hypermobility there are other features of the relevant syndrome. In the idiopathic form clinical features include:

1. joint pains, particularly in the knee following exertion 
2. three or more signs of ligamentous laxity: 
3. elbow hyperextension of greater than or equal to 10 degrees. 
4. ability to push back thumb to touch the anterior surface of the forearm. 
5. flexion of 5th metacarpophalangeal joint to 90 degrees 
6. knee hyperextension of greater than or equal to 10 degrees. 
7. ability to put palms on floor with knees extended 

joint laxity
 

• Hypermobility is common, and is more frequent in girls than boys. There are some specific causes, but mild hypermobility can be idiopathic.
• Management is by avoidance of activity that causes pain.
• Prognosis is good, with reduction of hypermobility with age. However, in severe instances secondary arthritis may develop.

Dysautonomia Common in Joint Hypermobility Syndrome

NEW YORK (Reuters Health) Jul 24 - Dysautonomia appears to be an extraarticular manifestation of joint hypermobility syndrome, according to results of a study conduced in Israel.

To better understanding the pathophysiology of symptoms such as orthostatic tachycardia and subjective hypohidrosis (can't sweat adequately) in patients with the syndrome, Dr. Giris Jacob, of Rambam Medical Center, Haifa, and colleagues evaluated the frequency of autonomic nerve system complaints and performed autonomic function tests in 48 consecutive patients and 30 sex- and age-matched healthy volunteers.

According to their report in the American Journal of Medicine for July, all 48 patients and 3 volunteers had at least five orthostatic symptoms for at least 6 months. Patients commonly experienced presyncopal symptoms, palpitations, chest discomfort, fatigue and heat intolerance.

Even though there were no cardiovagal abnormalities, the patients exhibited signs of dysregulated sympathetic nervous system control. For example, the drop in systolic blood pressure during hyperventilation averaged 11 mm Hg in patients and 5 mm Hg in controls.

Patients also exhibited hyperresponsive reactions to beta-1 and alpha-1 adrenoreceptors, as evidenced by lower doses of isoproterenol and phenylephrine required to increase heart rate or systolic blood pressure.

These patients generally don't require extensive autonomic function testing, Dr. Jacob told Reuters Health. "The main thing is to get a complete medical history regarding the autonomic nervous system, and hemodynamic data, such as blood pressure and heart rate in the supine position and after standing for 5 minutes."

He believes that pharmacologic treatment is required only when quality of life is compromised significantly by the autonomic symptoms. "A high-salt diet, extra fluid intake, and physical therapy to strengthen the muscles in the lower extremities proved to be very helpful," he said.

He and his colleagues are now planning to do genetic studies in patients with hypermobile joint syndrome, and to look at the pathophysiology of blood vessels.

Am J Med 2003;115:33-40.

Kaplinsky C, Kenet G, Seligsohn U, Rechavi G.

Department of Paediatric Haematology-Oncology and Institute of Thrombosis and Haemostasis, The Chaim Sheba Medical Centre, Tel-Hashomer, Israel.

A bleeding tendency manifested by petechiae and ecchymoses is one of the most common causes for referral of patients to haematology clinics. Vessel wall pathology is not usually considered to be a cause for deranged haemostasis, although coexistence of increased capillary fragility and joint hypermobility have been reported. We determined the frequency of thumb hyperextensibility and scored the findings in a series of 44 patients referred because of ecchymoses and petechiae, as well as 261 control children and their mothers. All 44 patients had normal coagulation studies. Thumb flexibility score was +4 in 30 patients, +3 in eight patients, +2 in five patients and +1 in one of the index patients. In the control group, only one of 261 had a +4, and three had a +3 score, and two of 260 mothers had a +4 score. Ecchymoses were not observed in any of these subjects, nor in the +1 patients. 

Based on clinical presentation and normal coagulation studies, we suggest that our patients had an underlying subtype of Ehlers-Danlos syndrome. In view of the dramatically high occurrence of thumb hyperextensibility in patients with unexplained mild bleeding tendency, costly haemostatic and coagulation studies on such patients may not be necessary.

PMID: 9609520 [PubMed - indexed for MEDLINE]

Gedalia A, Press J, Klein M, Buskila D.

Department of Pediatrics, Louisiana State University Medical Center, New Orleans 70112-2822.

OBJECTIVES--To test the hypothesis that joint hypermobility may play a part in the pathogenesis of pain in fibromyalgia, schoolchildren were examined for the coexistence of joint hypermobility and fibromyalgia. METHODS--The study group consisted of 338 children (179 boys, 159 girls; mean age 11.5 years, range 9-15 years) from one public school in Beer-Sheva, Israel. In the assessment of joint hypermobility, the criteria devised by Carter and Bird were used. Any child who met at least three of five criteria was considered to have joint hypermobility. Children were considered to have fibromyalgia if they fulfilled the 1990 American College of Rheumatology criteria for the diagnosis of fibromyalgia, namely, widespread pain in combination with tenderness of 11 or more of the 18 specific tender point sites. The blind assessments of joint hypermobility (by AG) and fibromyalgia (by DB) were carried out independently. RESULTS--Of the 338 children 43 (13%) were found to have joint hypermobility and 21 (6%) fibromyalgia; 17 (81%) of the 21 with fibromyalgia had joint hypermobility and 17 (40%) of the 43 with joint hypermobility had fibromyalgia. Using chi 2 statistical analysis, joint hypermobility and fibromyalgia were found to be highly associated. 

CONCLUSIONS--This study suggests that there is a strong association between joint hypermobility and fibromyalgia in schoolchildren. It is possible that joint hypermobility may play a part in the pathogenesis of pain in fibromyalgia. More studies are needed to establish the clinical significance of this observation.

PMID: 8346976 [PubMed - indexed for MEDLINE]

Latest Research

Prof Rodney Grahame & Dr Alan Hakim Department of Rheumatology, University College Hospitals, London

We have been working on a 5-part questionnaire to identify hypermobility. If you answer yes to at least 2 of the 5 questions then there is an 80-90% chance you are hypermobile. We hope it will become a simple aide memoire for doctors and allied health practitioners, encouraging them to think about hypermobility as the cause for musculoskeletal problems.

The questions are: 

1. Can you now (or could you ever) place your hands flat on the floor without bending your knees? 
2. Can you now (or could you ever) bend your thumb back to touch your forearm? 
3. As a child did you amuse your friends by contorting your body into strange shapes or could you do the splits? 
4. As a child or teenager did your shoulder or knee cap dislocate on more than one occassion? 
5. Do you consider yourself to be double-jointed? 
I'm 5 for 5, I'd say almost 100% of dancers etc. are - do does that predispose us to dysautonomia? or are dysautomaniacs predisposed to dance?

2. HMS and local anaesthesia

In our survey of questions for the 5-part questionnaire we also asked about local anaesthetics as there has been work published suggesting that patients with joint hypermobility syndromes may be more resistent to them. We found that people with Benign Joint Hypermobility Syndrome are three times more likely than non-hypermobile individuals to have noticed that either local anaesthetic did not work at all or that they needed to be given more than usual to gain any benefit. We do not know the mechanism behind this but clearly it is an important message to get accross to colleagues in both hospital and general practice as well as dentistry. 

3. Vascular problems and HMS

There has been some interesting work done recently looking at the many other non-musculoskeletal symptoms experienced by those with benign joint hypermobility syndrome. In particular people often complain of vascular problems of feeling faint, actual fainting or palpitations. A lot of people also experience gastrointestinal symptoms such as heartburn and irregular bowel habit. In our clinic we found that up to 60% of our patients have these kinds of symptoms on top of the more classic ones of widespread pain, anxiety and fatigue.

Dr Gazit and colleagues from Israel have done some important work that suggests that these kinds of vascular symptoms may be the result of poor functioning of the autonomic nervous system. This is a part of the nervous system that we do not have specific control over. It is responsible, in part, for maintaining our blood pressure and pulse when we move from lying to standing, or increase our level of activity. For some people the autonomic nervous system does not work as well as it should and their blood pressure falls and their pulse rises when they stand up. This makes them feel dizzy and experience 'palpitations', possibly even chest tightness and shortness of breath. Prof Grahame and I, with colleagues from the National Hospital for Neurological Diseases, Queen Square, are looking at this in more detail at present.

Ref. Hakim AJ, Grahame R. Symptoms of autonomic nervous system dysfunction in the benign joint hypermobility syndrome. Rheumatology (Oxford) 2003; Volume 42 supplement: Abstract number 47.

A study looking at the association between hypermobility and complications of pregnancy, particularly rapid delivery and tissue damage in labour. A study exploring the benefits and complications of conservative and surgical management of orthopeadic problems in the shoulder and knee in patients with benign joint hypermobility syndrome.

...'Hypermobility Syndrome - Recognition and Management for Physiotherapists' by Prof Grahame and Rosemary Keer was published on 3 June 2003. Although it is written for physiotherapists, it would still be very accessible to the 'un-medical'.

(Editors note: 'Hypermobility Syndrome - Recognition and Management for Physiotherapists' by Prof Grahame and Rosemary Keer is available from Amazon for £29.99 or a number of copies have been pre-ordered by the HMSA (for members) at a discount. If you are a member and would like to order a copy please e-mail us)

Latest Research in Scotland - Prof W Ferrell

Professor William Ferrell has been awarded a grant from the Arthritis Research Campaign to compare the differences in muscle reflexes and the sensations originating from proprioceptors - sensory nerve endings which feed back information about muscles and tendons to the brain in individuals with HMS. For more information click here.

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Much love from Anne

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I am wondering what tests you have all had?  That is whether you have had them all for nervous system disorders.  Perhaps if I list them it could help you to check what you may not have had.

General 
Bear in mind for all these tests you must be attatched to bp monitor.
Monitored blood pressure and heart rate while you:
 

• Tilt table test - lie on a tilt table, secured to it- You are raised gradually to upright position -stay upright for 20 minutes- than down flat again.  This will show if bp fluctuates. Mine changes as I am moved up going lower and lower. Raises when put flat again.
• Breathing test -Take deep beathes for 1 minute.  This shows if bp fluctuates, dizzyiness occurs or you end up on the floor!!  I do well before the minute!  Bp falls out of sight!
• Valsalva Manouever - You blow into a tube to maintain incressed pressure in your chest. This also shows bp fluctuations in bp. I cant do this either without blacking out!

• Sweat test - You wear a disposable swim suit and have orange powder applied to all skin - You go into a sauna type room. It is very warm and humid.  Where you sweat the powder turns purple. It is also called a thermorguatory sweat test depending where you live. This tell the doctor which part of the autonomic system is working and which is not. I go purple from the neck up.  No where else!
• Quantative Sweat Axon Reflex Test - A small battery-operated curent stimulates the glands directly. - Limbs etc are compared.
• Laser test - A laser is taped to the skin measuring the blood flow.
• Blood pressure cuff is inflated around limbs to further measure blood flow.
• Limb Volume Displacement Test- Limbs are immersed in warm water to detect if it causes any swelling.
• Infared Probe - this does not touch the skin but measures skin temperature in different parts of the body.

• There are other tests too of course such as sensory - pupils re-acting to light - MRI, perception etc. Bladder and bowel you would know from symptoms.  Though the bowel should be scanned if a problem, just in case another cause.
• When there is unexplained pain then nerve conduction studies should be conducted.

• CBC (Complete Blood Count) 3 monthly.
• Hemoglobin/Hematocric - to measure the oxygen carrying capacity of blood - 3 monthly.
• WBC (White blood Cell Count) When infection is suspected.
• Electrolytes-Sodium and Potassium levels - Critical to test nervous system function -Can drop dramatically!  3 monthly.
• Magnesium, Calcium - Important if having muscle probs or, seizures of any kind aches and/or pains. Shortage of either can cause or, make worse. 3 monthly
• Diabetes - Can occur in conjunction with autonomic probs. 3 monthly.
• ESR (sed rate)- Measure of inflamation in body.  Especially important if one has headaches regularly. 3 monthly
• ANA/RF - Helps to diagnose lupus and rheumatoid arthritis, both can mimic and affect peripheral and central nervous system. 3 monthly.
• SPEP/IPEP - Protein and imune gloulin measurements. This is used to check disorders of white blood cells that lead to nerve pain.  Especially important to those that are experiencing pain!

• EEG (Electrocardiogram) Check for epilepsy that can be a side kick of nervous system.  I have that!
• Evoked Potentials-
• Measurement of nerve conduction from peripheral to central nervous system from eye, ear ot limbs.   Can diagnose MS etc.
• Gastric Empying Test- For those with a problem eating with no swallow problem eg loss of appetite.

• I would like to make some comments on what you wrote about tests. Knowing what you have to pay for tests (well if the same as America) Would it not be worthwhile to buy a spigometer( Item that takes bp, have to say that as sometimes we have different names for things!)  and do some of these tests yourself at home?
• For example -Meal study- I wouldn't be paying for that, with a spig of your own you can do it at home. An electronic wrist one will also tell you of heart rate changes when you eat, and other times of course.
• The tilt table really you can also check yourself by taking bp laying down, then sitting and then standing. Standing for 2 minutes!
• Valsalva, yes you need a doc to do it for the equipment.Although I could say for example if I tried to blow up a balloon I would black out!  So although I do have the tests that is always the result!
• Clonidine - (I have PAF) I was put into hospital to try that when it was new.  Got into awful strife.  It raised my bp all right, so much so it was sky high, thought a bomb had gone off, and knew nothing for days, I had gone into a coma!  I had to have a spinal tap as they thought I had had a stroke!!!In was extremely lucky that I hadn't. My bp hit 300/260 from the usual 50/30. Of course it was stopped!!  That was a low trial dose too.  ANYTHING that is a stimulant I have to avoid like the plague!  When my heart had a real bad spate of being erratic, and low rate they put on an anginine patch.  SAME result.  It had to come off after 2 hours as agian I was slipping away!. Heaven help me if I ever get a heart prob!!  One time when my bladder first stopped I was given a stimulant injection of Urecholine.  I literally died, and had to be resusitated.  Spent another few days in ICU !  Ephedrine (such as in  cough mixture the same.
• So if you suspect PAF please be careful!!!
• Exercise study - They gave up checking that long ago as I would agin black out and fall off!! I think the point was proved! )
• 24 HT moitoring is good.  That here, is put on you and you go home with it on and keep a diary of all you do. So they can correlate the lows etc.

We don't have to pay for tests here, but I do have a spig from my nursing days.

I would think it would be a good investment to buy one, and do some of these test at home to avoid the costs of tests that you may pay a lot for or wait a long time for when you can rule out or find positive at home. Even the excersise study can be done with another keep pumping it up and checking whilst you excercise! I hope you don't think me cheeky!!
Just trying to save you money!!

I do feel the 3 monthly checks are essential even if you are not yet diagnosed as swings can give guidence to probs.
I have to say I wish you all lived here and then you would have no prob geting these tests done and for free if on disability.  Even if you just want a test, say a chest Xray, you just say to your doctor 'Don't you think I am due for a chest Xray'?  He then sends you for one the next day!!!! Or, 'My bloods are due' Again you go next day, no charge!!
 

I now have all the info on the Autonomic tests and what they are used for(some info comes from reading research papers of Prof Mathias some comes directly from his staff)

• Meal Study...studies the effect of a balanced liquid meal on suppine and standing BP..normal...no change ,PAF ..big drop in BP, MSA...substantial drop but not as big as PAF. 
• Screening Autonomic Function tests....continuous measurement of HR ,BP and respiration in head up tilt doing manouvers such as deep breathing, Valsalva, also suppine and standing Adrenaline and Noradrenaline plasma levels. 
• Clonidine Study....as far as I can tell clonidine raises level of growth homone in healthy people and those with PAF, but not in those with MSA. 
• Exercise Study...supine exs on bike measures the effect on BP during ,and following in standing....normal increased BP in supine,no fall after exs, PAF,SDS,MSA exs produces fall in BP during and after exs 
• 24hr BPand HR monitering 
• Sweat test....self explanatory? 

Hope you can one day get the same kind of testing done in BC .Prof Mathias  said Dr. Calne in vancouver (a PD specialist ) has been talking about setting up an Autonomic testing lab for some time but just hasn't got around to it.However now that research has shown 60-80% of PD pts have autonomic failure he thinks it may soon happen. 

Love for now

Margaret 

Margaret

In 1984, the Canada Health Act defined and reaffirmed the five principles of Medicare as expressed in the 1964 Royal Commission on Health Services by Justice Emmett Hall.

The 1991 British Columbia Royal Commission on Health Care and Costs fully endorsed and supported the following principles

Comprehensiveness: 
     all medically necessary health care services provided by physicians or in hospitals must be
     covered by provincial health care plans. 

Universality:
     all residents of a province be entitled to insured services through uniform terms and conditions.

Portability: 
     host-province rates apply  to health care services provided elsewhere in Canada and establishes
     national standards for out-of-country benefits.  It also requires the province-of-origin's consent
     for the coverage of elective services provided to a resident outside of the province.

Accessibility: 
     provincial health care plans must provide for insured health services through (uniform terms
     and conditions) and must not impede or prevent reasonable access to these services by any
     means. 

Public administration:  the Canada Health Act  describes the elements of public administration as:
administration of the insurance plan without profit;  run by a public authority appointed or designated
by the provincial government and responsible to government; regular audits of the public authority.
Last Revised: 17 January 2000

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Aletta on tests: 

As far as tests go, it may be interesting for everyone else but they're painful, time consuming and inconclusive, at this point I need to be sold on their usefulness, and be an informed participant allowed to say no.  I always ask what difference the result would make on my quality of life. 

Spinal Tap:  I remember having one more than 30 years ago.  If asked, I would probably refuse one.  There are blood tests to rule out auto-immune diseases, and MRI's are considered the gold standard for MS.  The spinal tap I had was the most excruciatingly painful moment of my life and I think it may depend who is doing it, but I don't gamble. 

Ruling out other possibilities: 

When I first had sleep and fatigue problems, depression was the initial diagnosis, I was first put on Prozac (made me desperately ill and  dizzy), then Zoloft (dizzy and palpitations) and finally several months on Serezone, it did nothing for my fatigue or sleeplessness and was quickly discontinued when more autonomic symptoms surfaced.  It ruled out depression as a diagnosis.  The unrelenting progression of symptoms and negative MRI's ruled out MS.  A work up by a Rheumatologist ruled out CFS, Fibro myalgia and other auto-immune diseases.  It does all just seem a process of ruling out all else  while waiting for a consistent constellation of worsening symptoms.   I was fortunate to have at least one doctor dedicated to treating my symptoms meanwhile.   Other than the "use it or lose it " rule, pharmacology is your best bet, but it is trial and error learn all you can about the side effects, ask how it has helped others and know that it is ultimately your decision  to take or not take any medication.  My Doctor gives me all the information and research specific to Shy-Drager along with a prescription and leaves the decision to me.  If a doctor pushed a drug on me without a supported argument.  I am inclined to refuse it. 

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columnist Christine Gorman

Have you ever considered asking your doctor about getting a second opinion, then decided not to risk it? Maybe you were worried that she would feel insulted. Or that he would abandon you in a fit of pique. You're not alone. No matter how many times we're told that doctors are professionals and won't take it personally, lots of us still have trouble challenging their recommendations. That's too bad, because getting a second opinion often makes a confusing or complex decision about treatment easier to deal with. Sometimes it can mean the difference between life and death.

 The right to a second opinion has become a rallying cry in the ongoing debate over how far managed-care companies should be allowed to go to keep costs down. Seven states, including New York and California, have passed laws to guarantee patients the option of getting another point of view. Other legislatures will probably follow suit, which is somewhat ironic. "Second opinions used to be seen as a way to keep [doctors] from overtreating patients," says Todd Wagner, a health economist at the Veterans Affairs Health Care System in Palo Alto, Calif. "Now they're being looked at as a way to keep [patients] from being undertreated."

There is no one-size-fits-all set of guidelines for knowing when you need a second opinion or how you should go about getting one. But the best primer I've seen on the subject is a new book called Second Opinions: Stories of Intuition and Choice in the Changing World of Medicine by Dr. Jerome Groopman of Harvard Medical School (Viking, $24.95), due in bookstores this month. Second Opinions is not so much a how-to guide as an insider's view of how doctors and patients determine--often with limited facts--the best course of treatment. "Dealing with uncertainty is difficult for everyone, including doctors," Groopman says. "We all want to believe in the perfect solution."

A few basic lessons, however, do emerge. At the top of the list: a second opinion should include a second physical examination and a review of the original pathology slides and other tests, if any. Otherwise, the second doctor is assuming that the first doctor's diagnosis is correct.

If you feel you have no other options, that's precisely when you need a sober assessment of all the risks and benefits. Be especially sure to get a second opinion if you're told you need an experimental treatment. "Researchers tend to fall in love with what they're doing," Groopman notes.

Make sure the physician you consult is truly an independent judge. It's only natural for doctors who work in the same hospital to share views or want to avoid second-guessing their colleagues.

Don't overdo your search. Sometimes if you find yourself looking for a third, fourth, fifth or sixth opinion, what you're really doing is running away from the truth. No one knows that better than Groopman, who hurt his back 20 years ago and was told to rest until it healed. Not satisfied, he went doctor shopping until he found a surgeon who promised to fix it. Unfortunately, Groopman wound up in worse shape after the operation. Now, after two decades of suffering and intense physical therapy, the physician still hasn't completely healed himself. Sometimes, as Groopman learned the hard way, the best course is to do what your original doctor ordered.

clevelandclinicmeded.com....
Cleveland Medical Center

The difficulty in accurately distinguishing between neurodegenerative diseases that have Parkinsonian extrapyramidal features (multiple system atrophy, progressive supranuclear palsy (PSP), etc.) is reflected in statistics showing a high rate of misdiagnosis among movement disorder experts when patients are followed throughout the course of their illness to actual autopsy.7,8 Both of these series, one from Europe and the other from North American, point out a roughly 24% misdiagnosis rate at autopsy.

Director of the Maryland Parkinson’s Disease and Movement Disorders Center at the University of Maryland Medical Center inBaltimore. He pointed out that even in the hands of experienced neurologists, the rate of misdiagnosis of PD is about 15% to 20%,(1) a statistic he described as "quite sobering."

Differential diagnosis can be difficult--for example, at the early stages of the disease when symptoms are vague, or in very elderly people, when symptoms can be ascribed to the effects of ageing. As a result, about one quarter of patients diagnosed in life with Parkinson's disease by specialists do not have the disease at post mortem, and the rate of misdiagnosis is probably higher with non-specialist physicians.

Studies have shown that a misdiagnosis rate of 25-35% is not uncommon.

That the Parliament welcomes Parkinson’s Awareness Week from 21-29 April 2001 and its focus on current research into the cause, treatment and cure of Parkinson’s disease; notes that the misdiagnosis rate of Parkinson’s may be as high as 30%

MISDIAGNOSIS
It has been estimated that as high as 30 percent of patients are misdiagnosed. These unfortunates are either labeled with some other tag such as mental illness or their symptoms of tremor or stiffness due to other ailments, such as familial tremor, are mistaken for Parkinson's disease

The following is a summary of the presentation on Sporadic Ataxia given by Dr. Mark Hallett at a recent ataxia symposium. The presentation was intended for physicians and is a bit technical but I think a very worthwhile summary for your own information. I have more information on many of the diseases mentioned or you can find out more yourself via a web search.

I would encourage those of you with an unknown form of ataxia to follow up with your doctors to find out exactly which tests you have had. There is a diagnostic plan at the end which Dr. Hallett recommends be followed in order to pinpoint the cause of sporadic ataxias. Please share this information with your doctor. 

Recent Advances in Inherited Ataxias Symposium
National Institutes of Health Bethesda, Maryland USA, March 27, 1998
 

SPORADIC ATAXIA
presented by Mark Hallett, M.D.
Many types of Sporadic Ataxia are due to a known cause which is included in the following categories. There are many patients however who still cannot be classified at this time. 1. Degenerative - 2. Stroke - 3. Tumor - 4. Toxic/Metabolic - 5. Paraneoplastic - 6. Auto Immune - 7. Infectious/Post Infectious - 8. Demyelinating  -  9. Non-cerebellar Origin -  10. Other - Diagnostic Plan

1. DEGENERATIVE

These types of sporadic ataxia include:

A. MULTIPLE SYSTEM ATROPHY (MSA) is the most common and has three variations: 

i. Olivopontocerebellar atrophy (OPCA) - more cerebellar signs (ataxia)
ii. Striatonigral Degeneration (SND) - more Parkinson's signs > > (bradykinesia (slowness) and rigidity)
iii. Shy-Drager Syndrome (SDS) - more autonomic signs

PRINCIPLE CLINICAL FEATURES of any of the 3 varieties can include:

a. ataxia
b. parkinsonism
c. autonomic dysfunction including:

• impotence which is a common first symptom in men 
• dry hands (inability to sweat)
• orthostatic hypotension or postural blood pressure (recommended to take blood pressure while patient is lying, standing, and standing after 3 minutes) 

VARIABLE CLINICAL FEATURES

a. pyramidal signs
b. poor response to levadopa
c. tremor
d. dysarthria
e. dystonia
f. mild dementia

PATHOLOGICAL HALLMARK

a. Glial Cytoplasmic Inclusions (GCIs) - this is a recent finding which can be seen upon autopsy in the brain of MSA patients. 

LAB WORK for MSA diagnosis

a. Autonomic abnormalities
skin sympathetic response (EMG)
sweat test
valsalva maneuver
heart rate variation
b. Sphincter EMG (this is a good indicator especially in men)
c. MRI, MRS, PET scans

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B. PROGRESSIVE MYOCLONIC EPILEPSY

ataxia is a prominent feature

2. STROKE

Several types of stroke can cause the symptoms of ataxia.

3. TUMORS

At least seven types.
MRI scan is the best diagnostic tool.

4. TOXIC/METABOLIC

A. Alcoholism
B. Post-hypoxic, hyperthermia
C. Celiac Disease (Gluten Sensitivity), anti-gliadin antibodies

Ataxia plus or minus myoclonus
Gluten sensitive enteropathy with malabsorption
Ataxia can progress despite good diet
Possible autoimmune disorder with antibodies formed against gluten

LAB WORK for Gluten Sensitivity diagnosis:

look for anti-gliadin antibodies in ataxias of unknown origin

D. Childhood hyperammonemas

E. Vitamin Deficiencies

1. Thiamine (B1)
2. B12
3. E
4. Zinc
Ataxia due to vitamin deficiencies are treatable and should not be overlooked in diagnostic workup.

F. Endocrine

1. Hypothyroidism
2. Hypoparathyroidism
3. Hypoglycemia (insulinoma)

G. Drugs/Toxins

1. Drugs

a. Phenytoin
b. Lithium
c. Serotonin syndromes

d. Cyclosporin

2. Toxins

a. Thallium, Bismuth subsalicylate
b. Methylmercury, methylbromide
c. Toluene

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5. PARANEOPLASTIC

These ataxias are related to cancer. Various antibodies are detectable: 
A. Anti-Purkinje cell antibody

1. Anti-Yo (tumor of breast or ovary)
2. Atypical anti-cytoplasmic antibody (Hodgins, lung, colon)

B. Anti-neuronal antibody

1. Anti-Hu (lung, breast, prostate)
2. Anti-Ri (breast and ovary)
3. Atypical Anti-Hu (lung, colon, adenocarcinoma, lymphoma)

C. Anti-CV2 antibody 

- ataxia and optic neuritis 
- small cell lung carcinoma 
- CV2 antigen 
- improvement with removal of tumor 

6. AUTO IMMUNE 

A. Antibodies to GAD (glutamine acid decarboxalese) > > 

- pure ataxia syndrome 
- possible peripheral neuropathy 

7. INFECTIOUS/POST INFECTIOUS

A. Encephalitis/meningitis 
- Rubella, H. Influenza 
B. Acute Post Infectious Cerebellitis
- Varicella (chicken pox) 
C. Cruetzfeld-Jakob Disease (CJD)

8. DEMYELINATING

A. Multiple Sclerosis (MS)

9. NON-CEREBELLAR ORIGIN

A. Neuropathies

1. Miller Fisher Syndrome (a form of Guillain-Barre Syndrome (GBS))
2. Paraneoplastic/autoimmune
3. Idiopathic

B. Spinocerebellar tract lesions

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10. OTHER

A. Chiari Malformation
B. Abscess
C. Hydrocephalus 
D. Superficial CNS nemosiderosis

DIAGNOSTIC PLAN

1. Take a good history (including family history) and physical exam
2. Standard lab tests including lipids and thyroid
3. MRI, PET, MRS 
4. Autonomic testing, sphincter EMG
5. Genetic testing
6. Toxic screen
7. Vitamin levels (especially vitamin E)
8. Anti-Yo, Anti-Ri, Anti-Hu (common tests)
9. Anti-gliadin antibodies (not currently available as a routine test)