The diagnosis

How is ALS diagnosed?

To date there is no such thing as a unambiguous test or method to diagnose ALS. A conclusive diagnosis can only be made by combining physical examination with a series of diagnostic tests that exclude other diseases, with symptoms similar to ALS. A complete diagnosis includes most, if not all, of the following methods:

• Family anamnesis (history)

• A complete physical neurological examination

• Electro-diagnostic measurements (with electromyography (EMG) and nerve conduction velocity (NCV)).

• Blood and urine tests with determination of serum proteins, thyroid and parathyroid hormone and 24-hour urine sampling for determination of concentrations of metals

• Lumbar puncture

• Radiology, X-rays, magnetic resonance imaging (MRI) of the brain and spinal cord

The neurologist evaluates and determines which further tests should be performed based on the results of the neurological physical examination and the diagnostic tests. Several other diseases indeed have symptoms similar to those of ALS.

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A person's reaction to an ALS diagnosis depends on his / her personality and life experience. However, certain reaction patterns often occur. One of the first responses is usually "denial". Sometimes, a second medical opinion is necessary for a patient to accept the diagnosis. Anger, both towards the medical staff and towards relatives, is also a common reaction. There may even be a kind of mourning process. The patient realizes that he / she will lose abilities and mourns some skills, even before he / she actually loses those specific skills.

The way in which the diagnosis is communicated with the patient is of extreme importance. The diagnosis discussion requires thorough preparation and should never be short and purely informative. Most neurologists only share the diagnosis when they are absolutely sure. Yet, a wrong diagnosis is always possible. Also therefore, a second opinion may be useful. It is desirable to conduct the diagnosis discussion in the presence of a relative or close friend, and to inform the patient’s general practitioner about the diagnosis.

The emotional shock when hearing the diagnosis, the sadness, the anger and the despair are often so overwhelming that it may take a long time before new plans for the future are being considered in a clearheaded way. In addition, if patients develop ALS very quickly, they hardly get a chance to come up with suitable practical solutions.

It is important to start the diagnosis discussion with a description of the nature of the disease because living with ALS is an enormous psychological burden for both the patient and his /her environment. The pace and content of the conversation must depend on the patient’s questions. When discussing the prognosis, extreme caution is advised: the course of the disease may vary considerably from patient to patient.

The patient should always be encouraged to stay active and to participate in social life as much as possible. Understanding, support and advice are not to be discussed immediately during the diagnosis conversation; they are more appropriate during the later phases of the disease, because the patient will continuously be facing new loss situations. During each phase of his or her illness, the patient should decide on the amount of information that he / she can or wants to absorb. However, respecting these wishes may be in conflict with the course of the illness and the treatment plan.

When the diagnosis is ultimately accepted by the ALS patient, he / she is likely to close himself from the outside world and become depressed considering his her projected future. Such emotions are perfectly normal. Often these reactions are transient, although periods of depression and resentment may reoccur.