Amyotrophic Lateral Sclerosis is a rare neuromuscular disorder with a rapid course. This means that it is a progressive muscle disease. The average life expectancy after the first symptoms is three years. There is only one medicine that, if taken early in the disease, extends life on average by three months. However, it is not so easy to take this medicine early in the disease, because the diagnosis must first be made.
However, the complaints are often vague in the beginning of the disease: muscle weakness, fatigue and reduced resilience.
The diagnose
Because the symptoms are not clear and there are no specific laboratory tests, it takes an average of a year before the diagnosis is made. The diagnosis is made by excluding all other conditions that can cause similar symptoms.
Usually it only becomes clear that it is Amytrophic Lateral Sclerosis when the disease has spread to several parts of the body. In practice, this means that it often happens that a patient is told by a neurologist that nothing is wrong.
The disease spreads further and further throughout the body, and if the respiratory muscles are eventually affected, the patient dies (do not immediately think of suffocation). The disease does not affect feeling, thinking, bladder or heart.
Life expectancy
It is impossible to predict how long someone will live with this disease. The longest known survival time is 35 years, the shortest known survival time is 3 months.
Something is known about the average survival time:
- after 1 year 75% are still alive
- after 2.5 years, 50% are still alive
- after 5 years 25% are still alive
- after 10 years, 10% are still alive
The cause of the disease is not known, but occasionally the disease occurs regularly in families. This is then referred to as ‘familiar ALS’. In all other cases, this is referred to as ‘sporadic ALS’ (pronounce the letters ALS separately).
The course of the disease
Gradually, the motor cells in the spinal cord and medulla oblongata stop their work. This causes muscle weakness, the muscles become thinner and spontaneous muscle twitches occur. Who calls muscle twitches with fasciculations. In addition, the central motor command pathways do not function properly. These command pathways are supposed to transmit the impulses from the cerebral cortex to the motor cells. If that doesn’t go well, someone will involuntarily yawn, laugh or cry.
The treatment
Because it is not yet possible to cure the disease, treatment currently consists of guidance by a specialized rehabilitation team and palliative treatment.
Making the diagnosis of ALS
People who are diagnosed with ALS have often come a long way before the diagnosis is made. There are a number of causes for this. The complaints are very vague in the initial phase, which is why someone with these complaints does not quickly go to the doctor. A general practitioner generally sees a maximum of two people with ALS in his/her entire career and therefore does not always recognize the complaints. And ALS is also difficult to demonstrate.
Vague complaints
The first complaints are usually very vague and can also have completely different causes:
- someone occasionally drops something from his/her hands
- Someone stumbles every once in a while
- someone speaks in a somewhat unclear or nasally manner
- a finger doesn’t move well
- one foot is a bit weak
And it usually does not involve all of these complaints at the same time, someone usually only has one of these complaints in the beginning.
GP
A general practitioner does not expect that everyone who comes to the consultation with vague complaints has a rare disease. Certainly not if those complaints can also be translated into a diagnosis that is much more common. It may therefore take a while before the patient is referred to a neurologist.
Neurologist
A neurologist sees people with ALS slightly more often than a general practitioner, but ALS is also a rare disease for a neurologist. Even a neurologist does not always recognize the disease, which means that people can be sent home without any treatment. If you are unsure whether the correct diagnosis has been made, it is advisable to discuss this with your neurologist and your GP and ask for a second opinion.
Suspect
If a neurologist suspects that it is ALS, the patient is referred to the ALS Center. The neurologists at the ALS Center make the diagnosis by excluding all other diagnoses.
Length of time
In the past, this entire process took approximately 16 months. Since the existence of the ALS Center, this time period has been shortened to approximately one year.