How is the diagnosis made?
To date, there is no unequivocal test or method for diagnosing ALS. A conclusive diagnosis can only be made by combining a physical examination with a series of diagnostic tests to rule out other diseases that resemble ALS in terms of symptoms. Such a diagnosis involves the following methods (some or all):
● Family history
● A full neurological physical examination
● Electrodiagnostic measurements (with electromyography (EMG) and nerve conduction velocity (“NCV”)).
● Blood and urine analyses with determination of serum proteins, thyroid and parathyroid hormones and a 24-hour urine sample in particular to determine metal concentrations.
● Lumbar puncture
● Radiology , X-rays, magnetic resonance imaging of the brain and spinal cord.
The neurologist assesses and determines the additional tests to be carried out on the basis of the results of the neurological physical examination and diagnostic tests. Some other pathologies present symptoms similar to those of ALS.
To obtain a “second opinion” (independent second opinion on the diagnosis), the “medical contacts” link on the website can be used – Click here. For more information on the “second opinion” – Click here
A patient’s reaction to the diagnosis of ALS depends on their personality and life experience. However, certain reaction patterns are common. One of the first reactions is usually “denial”. Sometimes a second medical opinion is needed to accept the diagnosis. Anger, towards both medical staff and family members, is also a common reaction. A sort of mourning process may even occur. The patient(s) then realise(s) that they are going to lose certain skills and feel sorry about this, even before they have actually lost the specific skill.
The way in which the diagnosis is communicated to the patient is very important. The diagnostic interview needs to be well prepared and should never be brief and purely informative. Most neurologists only communicate the diagnosis when it is absolutely certain; however, a misdiagnosis is always possible. This is another reason why a second medical opinion may be useful. It is advisable to conduct the diagnostic interview in the presence of a family member or friend, and to inform the patient’s GP of the diagnosis.
The emotional shock of the diagnosis, the grief, anger and despair are often so overwhelming that it can take a long time to get back to thinking about clear plans for the future. What’s more, if the disease progresses very rapidly, some ALS patients have little opportunity to think about practical solutions.
It is important to begin the diagnostic interview with a description of the nature of the disease, as living with ALS is an enormous psychological burden for the patient and those around him. The pace and content of the conversation should be dictated by the patient’s questions. Extreme caution must be exercised when talking about prognosis: the course of the disease can vary considerably from one patient to another.
Patients should always be encouraged to remain active and participate in social life as much as possible. Understanding, support and advice are not yet an immediate issue during the diagnostic interview; rather, they come into play during the various later phases of the illness, as the patient will always be faced with new situations of loss. At each phase of their illness, patients determine how much information they can and want to process. Trying to respect this may not correspond to the course of the disease and the planned treatment plan.
When the diagnosis is finally accepted by the ALS patient, he or she may close off from the outside world and become depressed when considering the future. Such emotions are completely normal reactions. Often, these emotions are temporary, although periods of depression and resentment may recur.