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Disclaimer: The material presented in this site is intended for public educational purposes only. The author is not offering medical or legal advice. Accuracy of information is attempted but not guaranteed. Before undertaking any diet, or health improvement program, you should consult your physician. The author is in no way liable or responsible for any bodily harm, physical, mental or emotional state of any patient reacting to any of the content on this site. Thetinman.org has not examined, reviewed or tested any product or service mentioned herein. We are not being paid to advertise or promote any product or service mentioned herein. The links are offered strictly as examples of resources available. The site assumes no responsibility or liability of any kind related to the content of external sites or the usage of any product or service referenced. Links to external sites were live at the time of creation of the link. Thetinman.org does not create content for or manage external sites. The information can be changed or removed by the external site’s administrators at any time and they are responsible for the veracity of their information. Links are provided to support our data and supply additional resources. Please report broken links to administrator@thetinman.org. Thetinman.org is not a charitable foundation. It neither accepts nor distributes donations or funds of any kind.
LUMBAR PUNCTURE/ CSF ANALYSIS
Cerebrospinal fluid is withdrawn from the subarachnoid (below the third lumbar vertebra) space of the spinal column and examined for blood cells, c-reactive protein, lactic dehydrogenase, lactic acid, chloride, bacteria, malignant cells, glucose, glutamine, and protein levels. It can also screen for tumor markers such as carcinoembryonic antigen (CEA), alpha-fetoprotein, and human chorionic gonadotropin.
The patient is placed lying down in the lateral decubitus position (fetal), grasping the knees and instructed to hold as still as possible. The area is prepped. The needle is inserted and several viles are withdrawn. It takes approximately 20 minutes and can be uncomfortable. The patient will most likely be instructed to lie in a reclining position for one to two hours. There is a small risk of a spinal headache caused by leaking spinal fluid.
This test helps screen for: brain tumors, spinal cord tumors, encephalitis, myelitis, degenerative brain disease, autoimmune disorders, meningitis, encephalitis, degenerative cord or brain disease, multiple sclerosis, acute demyelinating polyneuropathy, Reye syndrome, and metastatic tumors.
In SPS and its variants, CSF may show elevated levels of anti-GAD 65/67 antibodies. PERM is usually associated with grossly abnormal cerebrospinal fluid. As the disease progresses, there is an increase in lymphocytosis, pleiocytosis, and oligoclonal bands with raised protein concentration. Neuronal loss and lymphocyte infiltration has been found in the brainstem and spinal cord.
1. Maida E, Reisner T, Summer K, Sandor-Eggerth H. Stiff-man syndrome with abnormalities in CSF and computerized tomography findings. Arch Neurol 1980;37:182-183.
ELECTROENCEPHALOGRAM (EEG)
The EEG measures the electrical activity of the brain. The patient is placed on his back. Sixteen or more electrodes are placed on the scalp over multiple areas of the brain to record impulses within the brain. It can monitor cerebral blood flow. The patient is instructed to lay still with eyes closed. It can take from forty-five minutes to two hours. This should not cause discomfort.
This test is used to screen for epilepsy, seizures, tumors, cerebellar lesions, head injury, encephalitis, Alzheimer disease, and cerebral infarct. It is nonspecific for classic SPS, however there are signs of SPS with PNS or PERM.
Electroencephalogram (EEG) is useful in patients presenting with a seizure disorder to establish diagnosis and provide a pre-treatment baseline. EEG may show abnormalities such as focal or generalized slowing or spike-and-slow wave epileptiform discharges, mesial temporal abnormalities, or extratemporal abnormalities.
In SPS plus PERM, unexplained epilepsy is a diagnostic indicator. In one case review, stiff-person plus PERM patients exhibited seizures, concurrent cerebral ataxia, or signs of encephalitis.
ELECTROMYOGRAPHY (EMG)
The surface EMG with electrodes and needle nerve conduction studies are usually performed together. They measure the electrical activity of muscles and nerves.
This test is performed by a specifically trained technician or physician in a lab or an office. It can cause mild discomfort. Areas may need to be shaved for electrode placement. Electrodes are adhered to the skin of the arms and/or legs. It is usually done on one side at a time.The placement of the electrode depends on specific muscle selection and the size of the muscle. The more body fat an individual has, the weaker the EMG signal. Small bursts of electricity are sent through the electrodes into the muscle to measure the shape, size, and frequency of the resulting signals. The muscle at rest is studied. The patient may be asked to contract the muscle slowly and progressively.
The needle portion is typically done last. Two fine-wire electrodes are inserted through the skin into the muscle tissue and the flow of current between them is measured.
EMG is used to screen for fibrillations, fasciculations, neuromuscular diseases, paraneoplastic syndromes, nerve dysfunction, myopathies, sarcoidosis, denervation, spastic or myotonic muscles, polymyositis, muscular dystrophy, myasthenia gravis, traumatic injury, hyperadrenalism, hypothyroidism, Guillain-Barre syndrome, spinal cord injury or disease, acetylcholine blockers, multiple sclerosis, diabetic neuropathy, anterior poliomyelitis, and amyotrophic lateral sclerosis.
The EMG is an important tool in diagnosing SPS. Classic electrophysiological abnormalities are present in most patients, although they are not seen in all muscles at the onset of the disease. The electro-physiological study should be repeated during the disease to confirm the diagnosis. EMG recording from paraspinal muscles may be useful when limb muscle recordings are equivocal.
On EMG, patients with stiff-person syndrome show continuous activity of motor units with superimposed bursts during muscular spasms. EMG should show continuous action potentials, indistinguishable from voluntary activity, normal motor units which persist during attempts at relaxation, and are most prominent in axial muscles. The persistent bursts are 50-60 mg duration, 5-6 hz, rhythmic and synchronus, interruption of bursts by spasms, rapid activity, full interference pattern >4 seconds. Activity is reduced by IV diazepam. No fibrillations or grouped rhythmic discharges were seen. There was poor relaxation after contraction.
At rest, spontaneous constant discharge of normal motor units was recorded, especially from proximal skeletal muscles superimposed by occasional bursts of groups of action potentials corresponding to spasms. Increased activities continued despite the request to relax. Muscle extension, muscle shortening, and stroking of the skin causes increased activity which spreads to several segments and to the contralateral side.
In SPS plus PNS, nerve conduction studies show a mixed sensory and motor axonal neuropathy and occasionally typical demyelinating features that respond well to IVIG. Nerve conduction studies are normal; however, the cutaneomuscular reflex is enhanced excessively in SPS.
Articles on EMG:
1. Vasconcelo, OM, Dalakas MC. Stiff Person Syndrome. Current Treatment Options in Neurology 2003; 5:79-90 Link to article.
2. Stiff-Person Syndrome. Movement Disorders Web site. http://www.movementdisorders.org/disorders/stiff_persons. php.Accessed April 29, 1014. Link to site
3. Disorders of Neuromuscular Transmission. In: Beers MH, Burkow R, The Merck Manual of Diagnosis and Therapy, 17th ed. West Point, PA: Merck Research Laboratories; 1999:1497
4. Floeter MK, Valls-Solé J, Toro C, Jacobowitz D, Hallett M. Physiologic studies of spinal inhibitory circuits in patients with stiff-person syndrome. Neurology. 1998 Jul;51(1):85-93.
5. Lorenzoni PJ, Scola RH, Cláudia S.K. et al. Electrophysiological characteristics in four patients from Brazil with stiff person syndrome. J Clin Neurosci. 2012 Jun;19(6):889-91. doi: 10.1016/j.jocn.2011.08.034. Epub 2012 Mar 2.
6. Martinelli P, Nassetti S, Minardi C, Macrì S, Ippoliti M. Electrophysiological evaluation of the stiff-man syndrome: further data. J Neurol. 1996 Jul;243(7):551-3.
7. Piccolo G, Cosi V, Zandrini C, et al. Steroid-responsive and dependent stiff-man syndrome: a clincal and electrophysiological study of two cases. Ital J Neurol Sci 1988;9:559-664
8. Rakocevic G, Floeter MK. Autoimmune stiff person syndrome and related myelopathies: understanding of electrophysiological and immunological processes. Muscle Nerve. 2012 May;45(5):623-34. doi: 10.1002/mus.23234. Review.
9. Mamol IB, Heiss WD, Maida E, and Podreka I. Electrophysiologieal Studies on the "Stiff-Man" Syndrome J. Neurol. 217, 111-121 (1977).
COMPUTERIZED TOMOGRAPHY (CT SCAN)
CTs are performed with and without oral or IV iodinated contrast dye and are used to create 2-D and 3-D images of the brain, chest, heart, abdomen, and pelvis.
The patient is placed on a sliding platform. The position depends on the area being scanned. If contrast is used, a port will be placed in the arm. The tunnel is quite short and should not cause issues for patients with claustrophobia. The patient must hold completely still during bursts of the scan. The scan can take 30 to 90 minutes. The scan itself is not painful. The only discomfort arises from lying on a flat table and the injection site if contrast is used.
The CT scan is used to screen for tumors, abscesses, cysts, calcifications, inflammation, bleeding, trauma, hypertrophy, perforation, fractures, lacerations, diverticulitis, appendicitis, fibroids, multiple sclerosis, meningioma, enlarged lymph nodes, hiatal hernias, lymphoma, and thymoma.
If SPS plus PNS or PERM is suspected, CT scans of chest, abdomen, and pelvis, or mammography may be warranted.
1. Maida E, Reisner T, Summer K, Sandor-Eggerth H. Stiff-man syndrome with abnormalities in CSF and computerized tomography findings. Arch Neurol 1980;37:182-183.
2. O'Toole O, Murphy R, Tracy JA, McKeon A. Teaching NeuroImages: PET-CT hypermetabolism paralleling muscle hyperactivity in stiff-person syndrome. Neurology. 2013 Mar 5;80(10):e109. doi: 10.1212/WNL.0b013e3182840bad.
MAGNETIC RESONANCE IMAGING (MRI)
MRIs are performed with and without contrast (gadolinium) and are used to create images of the head, neck, spinal cord, heart, great vessels, liver and biliary tree, kidney, prostate, bones, joints, breast, pancreas, extremities, and soft tissues.
The patient is placed on a sliding platform. The position depends on the area being scanned. If contrast is used, a port will be placed in the arm. The tunnel is quite tight and patients with claustrophobia may need anti-anxiety medication. The patient must hold completely still and hold their breath during short bursts of the scan. The scan can take 30 to 90 minutes. The scan itself is not painful. The only discomfort arises from lying on a flat table and the injection site if contrast is used.
An MRI is used to scan for many types of abnormalities: brain tumors, muscular dystrophy, Parkinson’s, aneurysms, heart diseases, lung diseases, bone lesions, herniated disks, kidney stones, and gall stones.
MRI studies are not definitive for SPS but are useful to rule out other differentials. In most cases of SPS with PERM, brain MRIs are normal. However, in SPS with PERM or PNS, it may be warranted to rule out malignancy.
MUSCLE BIOPSY
Muscle biopsy is a procedure in which a biopsy needle is inserted into a muscle and a small amount of tissue is withdrawn. In an "open biopsy" the tissue is obtained through a small surgical incision. This is usually performed with local anesthesia.
There is mild to moderate discomfort associated with this procedure. It is used to distinguish between diseases within the muscle itself as opposed to disease within the nerves. It can also distinguish between myopathies with microscopic analysis using a variety of chemical reactions and stains. It can reveal changes in muscle structure.
There are no abnormalities on muscle biopsy associated with classic stiff-person syndrome.
DIAGNOSTIC TESTING
Disclaimer: The material presented in this site is intended for public educational purposes only. The author is not offering medical or legal advice. Accuracy of information is attempted but not guaranteed. Before undertaking any diet, or health improvement program, you should consult your physician. The author is in no way liable or responsible for any bodily harm, physical, mental or emotional state of any patient reacting to any of the content this site. Thetinman.org has not examined, reviewed or tested any product or service mentioned herein. We are not being paid to advertise or promote any product or service mentioned herein. The links are offered strictly as examples of resources available. The site assumes no responsibility or liability of any kind related to the content of external sites or the usage of any product or service referenced. Links to external sites were live at the time of creation of the link. Thetinman.org does not create content for or manage external sites. The information can be changed or removed by the external site’s administrators at any time and they are responsible for the veracity of their information. Links are provided to support our data and supply additional resources. Please report broken links to administrator@thetinman.org.