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Tests and diagnosis
By Mayo Clinic staffThere is no single test that confirms a diagnosis of primary lateral sclerosis. In fact, because the disease can mimic signs and symptoms of other neurological diseases such as multiple sclerosis and ALS, several tests are done to rule out other diseases.
After taking a careful record of your medical history and performing a complete neurological examination, your doctor may order the following tests:
- Blood work. Blood tests are done to check for infections or other possible causes of muscle weakness.
- Magnetic resonance imaging (MRI) of your brain and spine. An MRI or other imaging tests may reveal signs of nerve cell degeneration and look for other causes of your symptoms, such as structural abnormalities, spinal cord compression, multiple sclerosis and spinal cord tumors.
- Motor and sensory nerve conduction studies. These tests use a low amount of electrical current to test how quickly your nerves carry impulses through your body, and can indicate damage to nerve cells.
- Electromyogram (EMG). During this test, the doctor inserts a needle electrode through your skin into various muscles. The electrical activity of your muscles is evaluated when they contract and when they're at rest. This test can measure the involvement of lower motor neurons, which can help to differentiate between PLS and ALS.
- Cerebrospinal fluid analysis. An analysis of your cerebrospinal fluid, which is taken during a lumbar puncture in your lower back, can help to rule out multiple sclerosis and other causes of spasticity.
After other diseases are ruled out, your doctor may make a preliminary diagnosis of PLS. Sometimes doctors wait three to four years before being sure of the diagnosis, because early amyotrophic lateral sclerosis (ALS) can look just like PLS until additional symptoms surface a few years later. You may be asked to return for repeat electromyography testing over three to four years before the PLS diagnosis is confirmed.
- NINDS primary lateral sclerosis information page. National Institute of Neurological Disorders and Stroke. http://www.ninds.nih.gov/disorders/primary_lateral_sclerosis/primary_lateral_sclerosis.htm. Accessed Aug. 17, 2010.
- Juvenile primary lateral sclerosis. National Institutes of Health Genetics Home Reference. http://ghr.nlm.nih.gov/condition=juvenileprimarylateralsclerosis. Accessed Aug. 16, 2010.
- Murray B, et al. Disorders of upper and lower motor neurons. In: Bradley WG, et al. Neurology in Clinical Practice. 5th ed. Philadelphia, Pa.: Butterworth-Heinemann Elsevier; 2008. http://www.mdconsult.com/book/player/book.do?method=display&type=bookPage&decorator=header&eid=4-u1.0-B978-0-7506-7525-3..50116-3&displayedEid=4-u1.0-B978-0-7506-7525-3..50116-3--cesec19&uniq=215117994&isbn=978-0-7506-7525-3&sid=1040472768. Accessed Aug. 16, 2010.
- Brugman F, et al. Adult-onset primary lateral sclerosis is not associated with mutations in the ALS2 gene. Neurology. 2007;69:702.
- Tartaglia MC, et al. Differentiation between primary lateral sclerosis and amyotrophic lateral sclerosis: Examination of symptoms and signs at disease onset and during follow-up. Archives of Neurology. 2007;64:232.
- Gordon PH, et al. Clinical features that distinguish PLS, upper motor neuron-dominant ALS, and typical ALS. Neurology. 2009;72:1948.
- Hadano S, et al. Molecular and cellular function of ALS2/alsin: Implication of membrane dynamics in neuronal development and degeneration. Neurochemistry International. 2007;51:74.
- Motor neuron diseases fact sheet. National Institute of Neurological Disorders and Stroke. http://www.ninds.nih.gov/disorders/motor_neuron_diseases/detail_motor_neuron_diseases.htm. Accessed Aug. 17, 2010.
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