NIH Recommendations - Diagnostic Plan

[Guest guest]

I've posted this many times over the past 4 years and I think it is still

relevant as it came from a researcher at the NIH. Note it talks about MSA

as one possible cause of " ataxia " symptoms. Ataxia is the medical term for

loss of balance and coordination. Note it also recommends in the diagnostic

plan that scans such as MRI and PET be used to aid in proper diagnosis.

Perhaps it would be a good idea for those people who are questioning their

diagnosis to go through this list with their doctors and make sure nothing

significant has been overlooked.

Hugs,

Pam

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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.

Good luck with finding a diagnosis.

Regards,

Pam

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Recent Advances in Inherited Ataxias Symposium

National Institutes of Health

Bethesda, land 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

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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

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

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. Crutzfeld-Jakob Disease (CJD)

8. DEMYELINATING

A. Multiple Sclerosis (MS)

9. NON-CEREBELLAR ORIGIN

A. Neuropathies

1. Fisher Syndrome (a form of Guillain-Barre Syndrome (GBS))

2. Paraneoplastic/autoimmune

3. Idiopathic

B. Spinocerebellar tract lesions

10. OTHER

A. Chiari Malformation

B. Abscess

C. Hydrocephalus

D. Superficial CNS nemosiderosis

DIAGNOSTIC PLAN

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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)

" Develop a passion for living and a wonderment toward what great

experiences may be ahead. " - Jim Todd