ALS Multidisciplinary Clinic

Learn more about how ALS diagnosed, including the clinicians and specialists involved, the neurological exam and diagnostic testing.

Talking with Patients

A neuromuscular specialist will review the results of diagnostic tests

How Is ALS Diagnosed?Although individuals experience symptoms differently, a common first response to feelings of muscular weakness, slurred speech or a change in ability to perform tasks such as buttoning clothes or tying shoes is to attribute these changes to “getting older.”

Over time, however, an individual or a family member may realize that frequent tripping or falling, an inability to hold a full cup of coffee or slowed speech might be something more than a sign of aging. Occasionally, a coworker or boss may notice that the person’s ability to perform at their normal capacity at work has changed. Rarely, a person may realize that he or she is having difficulty catching his or her breath while performing various tasks.

Clinicians Involved in the Diagnostic ProcessAn appointment with a primary care physician (PCP) is often the first step to understanding symptoms and changes. The time that elapses between first noticing symptoms to visiting the doctor varies widely among patients and often depends on how rapidly symptoms worsen.

A PCP typically refers an individual to a neurologist for further evaluation but this referral can be delayed if symptoms are minor or are developing and changing slowly. Consulting with other types of doctors is a common experience that many patients have. Once the symptoms are recognized as a neurological problem, a neurologist will be consulted.

A neurologist will perform a detailed physical examination that focuses on muscle strength, reflexes, coordination, and sensation. Typically, a neurologist will perform tests to rule out many of the other possible causes of a patient’s symptoms. The type of symptoms, how fast or how slow they progress and change, and what other disease have to be excluded will affect the time it takes to determine the diagnosis.

Even after the tests rule out other disorders, a diagnosis of ALS may still be unclear. As a next step, individuals are often referred to a neuromuscular specialist, who specializes in nerves and muscles. The neuromuscular specialist will either assist in making a diagnosis or offer a second opinion to help confirm the possible diagnosis of ALS.

A neuromuscular specialist will review the results of the tests that have already been performed and may repeat some of them to see if there have been any changes over time. Meeting with a neuromuscular specialist will help ensure that the medical evaluation has been thorough and complete.

The Diagnostic Process

Step 1: Neurological Exam The first important step in the diagnostic process is an examination by a neurologist. This will include detailed family, work, and environmental histories. During the exam, the neurologist will look for typical features of ALS that may include:

  • Muscle weakness (which is often only on one side of the body, such as one arm or one leg) as well as changes in the character of the individual’s voice (especially slurred words or slowness of speech). The exam will evaluate muscles of the mouth, the tongue, and those involved in chewing and swallowing.
  • Lower Motor Neuron (LMN) features, such as muscles shrinking in size or muscle twitches. These twitches are called fasciculations and may occur when muscles contract without the nerve cells fully controlling them.
  • Upper Motor Neuron (UMN) features, such as hyperactive reflexes and muscle spasticity (a type of tightness and rigidity of the muscles).
  • Emotional changes resulting in the loss of some control of emotional responses, such as uncontrolled crying or laughing. The exam will also look at changes in thinking, such as loss of good judgment or loss of common social skills. The examiner will also look for problems in verbal fluency and word recognition abilities. These types of symptoms are less common or may be present but not readily noticeable.

The neurologist will also look for signs such as pain, loss of sensation, or extra-pyramidal rigidity, which is a different type of muscle rigidity that is frequently seen in Parkinson’s type disorders.

Step 2: Diagnostic TestsThe next step in the diagnostic process often involves a series of test. These typically include an MRI (magnetic resonance imaging) of the neck, and sometimes of the head and lower spine, an EMG (electromyography) which tests nerve conduction, and a series of blood tests.

Sometimes urine tests, genetic tests, or a lumbar puncture (also called a spinal tap) are also necessary.

EMGThe EMG is a very important part of the diagnostic procedure. Although this test can sometimes be uncomfortable, it is very important to have it done.

In the first part of the EMG, small electric shocks are sent through the nerves to measure how fast they conduct electricity and to find out whether there is any nerve damage. The shocks tend to feel like the kind you get from static electricity but may sometimes feel a bit stronger.

This first part of the EMG determines whether the individual has “nerve block,” which is a feature of a different disease called multifocal motor neuropathy. There is a chart at the end of this section which explains this disease a bit more. The first portion of the EMG also tests whether the nerves that communicate sensation are affected, which may also indicate a disease other than ALS.

The second part of the EMG tests the electrical activity of selected muscles. This is done by inserting a very fine needle into the selected muscles and using it to “listen” to the pattern of electrical activity in these muscles. No electric shocks are involved in this part of the test and the needle does not inject anything into, or take anything out of, your muscles.

Learn more about EMGs

MRIAn MRI is a painless, non-invasive procedure that offers a very detailed picture of the spinal cord, the nerves that come out of the spinal cord, and the bones and connective tissues that surround and protect the spinal cord. It shows more detail than a CAT (computed axial tomography) scan or X-rays. The MRI will help rule out pressure on the spinal cord or major nerves (such as from a herniated vertebral disk), Multiple Sclerosis, and tumors or bony abnormalities that compress the nerves. It can help detect vascular changes and strokes that sometimes affect the spinal cord or brain.

The MRI takes about 30 minutes. The individual having the MRI lies down inside a machine that is basically a large, rotating magnet. The test is noisy but it is painless. Some people have trouble being in a small, confined spaces and it is important to tell the doctor about this before the MRI begins so that medication can be given to help the person relax.

Blood, Urine and Other TestsBlood tests are used to look for evidence of other diseases whose symptoms are similar to early signs of ALS. These include tests for thyroid and parathyroid disease, vitamin B12 deficiency, HIV, hepatitis, auto-immune diseases, and some types of cancer. Creatine kinase (CK), a muscle enzyme released when muscles are injured or die, is also measured.

Specialized blood tests, such as autoimmune antibody tests, anti-GM1 antibody tests, and tests looking for high levels of protein in the blood and urine that may be related to some types of cancers, are also performed. Depending on the individual’s work and environmental history, the doctor may also test his or her urine for heavy metals.

In some rare cases, genetic tests and tests of hexosaminidase A levels, which can be related to juvenile spinal muscle atrophy, may also be performed. Genetic testing for ALS is usually only done when someone else in the family has ALS.

Occasionally, a lumbar puncture (also called a spinal tap) may be required. For this test, a small needle is inserted into the lowest part of the spine (below the spinal cord) to remove fluid which will be examined for abnormal cells. A lumbar puncture is usually done only if the individual has unusual features of ALS, such as spinal nerve abnormalities, or has no sign of abnormal reflexes or spasticity. Similarly, some people who have uncommon patterns of weakness, pain, or very high creatine kinase (CK) levels may need a muscle biopsy to look for muscle-specific diseases. However, this is rarely necessary.

Step 3: DiagnosisOnce these tests have been completed, the neurologist may be able to tell whether an individual has ALS. Sometimes, not all of the symptoms and findings that are required to make the diagnosis are present, especially in the early phase of the disease. In this case, the neurologist will repeat the physical and neurological exams and the EMG at a later date to look for changes over time.

The symptoms and disorders chart below explains some of the alternative diseases that neurologists look for when trying to determine whether an individual has ALS. These disorders share some symptoms that resemble those seen in ALS.

Symptom(s)Disorders With Features Similar to ALSTest(s)
Weakness in one arm or leg with muscle wasting Multifocal motor neuropathy EMG, GM1 antibody tests
Numbness in the arms and body, neck pain, past injury to the neck Cervical spine injury with radiculopathy MRI of the neck
Fine tremors of the muscle Benign fasciculations (no muscle weakness or muscle wasting and tremors do not worsen) EMG
Muscle weakness in arms or legs close to the body rather than at the far extremities. Sometimes there is muscle pain. Symptoms change slowly over time Inclusion body myositis (inflammation of the muscles) Blood tests, muscle biopsy
Double vision, droopy eyelids, muscle weakness that gets dramatically worse with prolonged effort Myasthenia gravis EMG, blood tests
Muscle atrophy (muscle shrinkage, weakness and loss of function), past history of polio Post-polio progressive muscular atrophy EMG
Men only: difficulty swallowing, difficulty walking, breast enlargement Kennedy syndrome (bulbospinal muscular atrophy) Genetic test, blood test
Problems with balance, speech and swallowing difficulties, cognitive decline, sometimes psychosis Late onset Tay-Sachs disease Blood test, MRI
Anemia, weight loss, sometimes fevers and chills, headache and stiff neck Motor neuron syndromes associated with lymph cancers (lymphomas, multiple myeloma, some leukemias) Blood tests, urine test, sometimes a lumbar puncture, MRI and bone scans
Anemia, weight loss, often with sensory changes, sometimes with unsteadiness Syndromes associated with and caused by lung, breast, and other cancers Blood tests, X-rays and CT scans of the chest, mammogram, colonoscopy
Muscle weakness and tremors, heat intolerance, heart palpitations Thyroid disease of an overactive thyroid (hyperthyroidism) Blood test

Modified from Layzer, RB. Chapter 415. Heredity and acquired intrinsic motor neuron diseases. In: Bennett and Plum (Eds), Cecil Textbook of medicine, W.B. Saunders, Philadelphia 1999.