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There are no specific tests that confirm stiff-person syndrome, except for the likelihood of anti-GAD65 antibodies, positive EMG results, and those antibodies associated with paraneoplastic syndrome and PERM.
However, tests can be used to work through the differential diagnosis process and help identify stiff-person variants and co-existing conditions. Your physician may not perform all of the options discussed herein.
Information on tests is drawn from Mosby’s Diagnositc & Laboratory Test Reference, 11th Edition (Elsevier) and Quest laboratories. Lab reference ranges vary based on population demographics, so they are not listed here. Generalized reference ranges can be viewed on the Quest Labs website or in Mosby’s or other test reference manuals.
Explanations of tests are provided to increase patient understanding of lab reports. Interpretation of the results should be left to medical professionals. There can be minimal variations from the ranges that mean absolutely nothing. Though a test can help screen for specific diseases, it does not mean the doctor suspects you have them. Some panels are routine.
Information regarding the relationship to SPS will be mentioned when applicable. Information is drawn from the hundreds of cited articles this site is based on.
Hyperlinks to Quest’s website are provided for in-depth information on tests.
1. Complete blood count with differential (CBC)
The complete blood count is used as a screening test for various disease states including anemia, leukemia, and inflammatory processes. Stiff-person syndrome has been associated with pernicious anemia and thyroid disease.
The CBC is a routine blood test and consists of white blood cells (WBC) with differential, red blood cell count, platelets, erythrocyte sedimentation rate (ESR), hemoglobin, and hematocrit.
2. Basic or Comprehensive metabolic profile (CMP)
This is a routine blood test which is helpful to provide an overall picture of your body's chemical balance and metabolism. Creatinine kinase is elevated in many autoimmune diseases and can help with the differential diagnosis.
It includes Alk phos, ALT, AST, BUN, creatinine, calcium, CO2, chloride, potassium, sodium, anion gap, chloride, bilirubin, c-reactive protein, creatine kinase (CK) aka creatine phosphokinase (CPK), and aldolase.
3. Lipid Panel
This is a routine blood test that is helpful in screening for hypercholesterolemia, hyperlipidemia, hypothyroidism, uncontrolled diabetes, nephrotic syndrome, pregnancy, hypertension, myocardial infarction, biliary cirrhosis, malabsorption, malnutrution, hyperthyroidism, pernicious anemia, hemolytic anemia, sepsis, stress, and liver disease.
It includes cholesterol, HDL, LDL, and triglycerides.
4. Serum Total Protein Electrophoresis
This panel of tests can be helpful in screening for or monitoring conditions that result in abnormal protein production or loss such as multiple myeloma or multiple sclerosis. Proteins are constituents of muscles, enzymes, hormones, transport vehicles, hemoglobin, and other key functional and structural entities in the body. They are measures of nutrition. It can be used to screen for chronic inflammatory disease, nephrotic syndrome, cirrhoses, tissue necrosis, infections, myeloma, and rheumatoid collagen diseases.
It includes albumin, cerulopasmin, globulins, and total protein.
5. Endocrine panel
Endocrine screening encompasses a wide array of tests for pancreas, adrenal, pituitary, thalamus, hypothalamus, and thyroid function. Some are routine. Some are specialized.
This category includes: glucose, glycated albumin, hemoglobin A1c, insulin, c-peptide, insulin autoantibodies (IAA), GAD65 IA-2, antipancreatic islet cell antibodies, ICA512 (IA-2) autoantibodies, ACTH, aldosterone, cortisol (Free), cortisol (Total), cortisol (24 hour), DHEA, estradiol, estrogen, progesterone, and testosterone.
6. Thyroid Function
Thyroid testing includes TSH, T4, Free T4, T3, Free T3, Total T3, T3 uptake, reverse T3, TSI (thyroid stimulating immunoglobulin), TBII (thyroid-binding inhibitory immunoglobulin), thyroglobulin, thyroglobulin antibody, thyroid antibody, TPO (thyroid peroxidase antibodies), calcitonin, and PTH (parathyroid hormones).
7. Sensory Neuropathy / Autoimmune Tests
These are specialized blood tests to screen for autoimmune disease, nervous system conditions, and inflammatory diseases.
This category includes ANA, ANCA, cryoglobulin, cyclic citrullinated peptide (CCP), endomysial antibody screen, IFA with reflex, IF IQN, ganglioside GD1a antibody (IgG, IgM), ganglioside GD1b antibodies (IgG, IgM), ganglioside GQ1b antibody (IgG), ganglioside GM-1 antibodies (IgG, IgM), ganglioside asialo-GM-1 antibody (IgG), ganglioside asialo-GM-1 antibody (IgM), anti-Hu antibody, immunoglobulin A ((IgA), immunoglobulin D (IgD), immunoglobulin E (IgE), immunoglobulin G (IgG), immunoglobulin M (IgM), myelin associated glycoprotein antibody (MAG), myeloperoxidase antibody (MPO), proteinase-2 antibody, rheumatoid factor, ribosomal P antibody, scleroderma antibody, Sögren's antibodies (SS-A, SS-B), and tissue transglutaminase antibody (tTG).
This is a highly specialized panel used for neuropsychiatric evaluation. This category includes: serotonin, GABA, dopamine, epinephrine, norepinephrine, and glutamate.
9. Vitamins and Minerals
This is a specialized panel that can screen for vitamin or mineral deficiency or toxicity and is often used in endocrine screening.
It can include: copper, folic acid, inorganic phosphorus, magnesium, vitamin B 12, vitamin D, 25 Hydropxy LC/MS/MS, vitamin D, 25OH, total, vitamin D 25OH D3, vitamin D 25OH D2.
10. Antibody Screening
There are a few antibodies associated with stiff-person syndrome, though the causative factor remains elusive. In addition, antibody tests associated with muscle diseases and paraneoplastic syndromes are listed.
This category includes: myelin associated glycoprotein AB with REFL MAG/SGPG (MAG), galglioside GM 1 Antibody (IGM) EIA , GM1 AB, MAG AB (IGM), Western Blot, antibodies to 128-kd synaptic protein, anti-AGNA, ANNA3, anti-ACHR, anti-amphiphysin, anti-CAR, anti -GABAB, anti-GABARAP, anti-GAD65, anti-GAD67, anti-gephyrin, antiglycine receptor antibodies, anti-Hu, anti-MAL1 anti-Mglur1, anti-Mglur5, PCA1, PCA2, anti-Ri, anti-Tr, anti-VGKC, anti-VGCC, anti-yo, anti-ZIC4, and CRMP-5.
11. Other Diagnostic Tests
In addition to blood tests, information is presented on imaging and diagnostic procedures including lumbar puncture, EEG, EMG, MRI, CT scan, and muscle biopsy.
OVERVIEW OF LAB TESTS