How to Diagnose ALS (Amyotrophic Lateral Sclerosis)

Three Parts:Looking Out for SymptomsGetting Diagnostic TestsGetting a Second Opinion

Amyotrophic Lateral Sclerosis (ALS), commonly referred to as Lou Gehrig's Disease, is a neurological disease that causes muscle weakness and negatively affects physical function. It is caused by the breakdown of motor neurons in the brain responsible for general and coordinated movements. There are no specific tests that confirm ALS, although a combination of tests measured against common symptoms can help to narrow down an ALS diagnosis. It is important to be aware of your family history and genetic predisposition for ALS and to work with a doctor to discuss any symptoms and testing.

Part 1
Looking Out for Symptoms

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    Know your family history. If you have a family history of ALS, you should talk with a doctor about watching out for symptoms.[1]
    • Having a family member who has ALS is the only known risk factor for the disease.[2]
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    See a genetic counselor. People with a family history of ALS might want to talk to a genetic counselor to find out more about risk for the disease.
    • Ten percent of people who have ALS have a genetic predisposition for the disease.[3]
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    Check for typical symptoms. If you have symptoms of ALS, contact your doctor. Frequently the first symptoms of ALS include:[4]
    • Muscle weakness in arm(s) or leg(s)
    • Arm or leg twitching
    • Slurred or labored speech
    • More advanced symptoms of ALS can include: difficulty swallowing, difficulty walking or performing daily activities, lack of voluntary muscle control needed for tasks like eating, speaking, and breathing.

Part 2
Getting Diagnostic Tests

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    Speak with a doctor. Talk to a doctor or clinic about getting evaluated for ALS if you have symptoms and especially if you also have a family history of the disease.
    • Testing can take several days and require a variety of different evaluations.
    • No single test can determine if you have ALS.[5]
    • Diagnosis includes observation of some symptoms and test to rule out other diseases.[6]
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    Get blood tests. Physicians will often look for the CK enzyme (Creatine Kinase), which presents in the blood after muscle damage from ALS has occurred. Blood tests can also be used to check for genetic predisposition, as certain cases of ALS can be familial.[7]
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    Get a muscle biopsy. Muscle biopsies can be performed to determine if other muscular disorders are present in an attempt rule out ALS. [8]
    • In this test, the doctor removes a small bit of muscle tissue to test using a needle or a small incision. The test only uses local anesthesia and does not usually require a hospital stay. The muscle may be sore for a few days.[9]
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    Get an MRI. Magnetic resonance imaging (MRI) of the brain can help to identify other possible neurological conditions that present with similar symptoms as ALS.
    • The test uses magnets to create a detailed picture of your brain or spine. The test involves laying very still for a period of time while the machine creates an image of your body.[10]
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    Get cerebrospinal fluid (CSF) tests. Physicians can extract a small amount of CSF from the spine to attempt to identify other possible conditions. CSF circulates through the brain and spinal cord and is an effective medium for identifying neurological conditions.[11]
    • For this test the patient usually lies on her side. The doctor injects an anesthetic to numb the lower spine area. Then a needle is inserted into the lower spine and a sample of spinal fluid is collected.The procedure only takes about 30 minutes. It can include minor pain and discomfort.[12]
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    Get an electromyogram. Electromyogram (EMG) can be used to measure electrical signals in your muscles. This allows doctors to see if the muscle nerves are working normally.[13]
    • A tiny instrument is inserted into a muscle to record its electrical activity. The test may cause a feeling like a twinge or spasm and may produce minor pain or discomfort.[14]
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    Get a nerve condition study. Nerve condition studies (NCS) can be used to measure your the electrical signals in your muscles and nerves. [15]
    • This test uses small electrodes placed on the skin to measure the passage of electrical signals in between. It may feel like a mild tingling feeling.If needles are used to insert electrodes there may be a small amount of pain from the needle.[16]
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    Get respiratory testing. If your condition is harming the muscles that control breathing a repository test may be used to find out.[17]
    • These tests usually involve different ways to measure breathing. They are usually short and just involve breathing into different testing devices under particular conditions.[18]

Part 3
Getting a Second Opinion

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    Get a second opinion. After speaking to your regular doctor, follow up with another physician to get a second opinion. The ALS association recommends that ALS patients always get an opinion from a second doctor who works in this field because there are other diseases that have the same set of symptoms as ALS.[19]
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    Tell your doctor you want a second opinion. Even if you feel reluctant to bring this up with your current doctor, he or she will likely be supportive because this is a complicated and serious condition.[20]
    • Ask your doctor to recommend a second person to see.
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    Choose an ALS expert. When getting a second opinion about an ALS diagnosis, talk to an ALS expert who works with many ALS patients.[21]
    • Even some doctors who specialize in neurological conditions do not regularly diagnose and treat patients with ALS, so talking to someone with specific experience is important.
    • Between 10% and 15% of patients diagnosed with ALS actually have a different condition or disease.[22]
    • As many as 40% of people with ALS are first diagnosed as having a different disease with similar symptoms even though they actually have ALS.[23]
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    Check with your health insurance. Before you get a second opinion you may want to check with your health insurance company to find out how your policy covers the cost of a second opinion.[24]
    • Some health insurance policies do not cover second opinion doctor visits.
    • Some policies have particular rules about selecting physicians for a second opinion so that the cost is covered by the plan.

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