The disease Charcot, also called amyotrophic lateral sclerosis is a neurological disease, i.e. a disease that affects the nervous system. It is more precisely a so-called neurodegenerative disease (indicating that certain major elements of the nervous system degenerate, disappear). These are nerve cells essential for motor function, which are altered.
This pathology leads to motor deficits. As a result, it has the main symptom: a difficulty moving a hand, an arm … the foot, at the beginning of the disease … then these signs gradually worsen over several months and years.
Amyotrophic lateral sclerosis is progressive, initially it concerns only certain muscles of the body. In fact the first signs depend on the region of the nervous system affected by the disease.
Charcot disease occurs on average around the age of 60 (although the range of symptom onset is fairly wide). This disease affects men a little more than women, without really knowing why.
It is estimated that there will be about 2 new cases per 100,000 inhabitants in our Western countries each year. In France, between 4,500 and 6,000 patients are affected by amyotrophic lateral sclerosis.
Amyotrophic lateral sclerosis Causes
The precise causes of Chacot’s disease, or amyotrophic lateral sclerosis, are unfortunately not really known. This neurodegenerative disease is due to the attack of certain nerve cells: motor neurons, that is to say the neurons responsible for the motor control of the nervous system, in clear those who will “give the order” to the muscle of contract.
As in many neurodegenerative diseases, inside diseased nerve cells, deposits accumulate, such as TDP-43 protein.
In the great majority of cases, Charcot’s disease occurs without any hereditary factor. In only about 10% of cases there are family forms.
Mutations of certain genes have been discovered: the SOD1 gene; Or the TARDBP gene; Or the VCP gene which encodes the Valosin Containing Protein. But they are found in a small proportion of patients suffering from amyotrophic lateral sclerosis.
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This means that this disease is due to genetic factors, but also environmental. Of these, many have been mentioned. Chemical substances such as lead, pesticides … have been accused, without any real evidence. The last track currently studied is cyanotoxin BMMA. This neurotoxin is produced by bacteria (cyanobacteria) that accumulate in aquatic environments (water freshwater or marine environment).
Research is important to know more about this disease, to find all the precise causes. Many avenues are explored like that working on the growth factors that interfere between the cells of the nervous system.
Symptoms of amyotrophic lateral sclerosis are:
> At first, the patient may experience problems in performing certain movements, common gestures. This may be due to clumsiness, such as difficulty grasping a pencil, lifting the arm, climbing a sidewalk when the leg muscles are touched … or articulating if the facial muscles are involved.
The patient suffers from a deficit or motor problems.
> Fasciculation’s: small involuntary and spontaneous contamination of several muscle fibers that can be observed on the surface of the skin. These fasciculation may concern the tongue, the intercostal muscles. The physician may search for them on clinical examination, by a small local percussion or by exposure to the cold. The patient may also suffer from cramps.
> Muscle problems (of neurological origin) cause the patient to have stiffness in walking, or other motor deficits.
The symptoms will of course depend on the region of the nervous system that is affected first. It happens, for example, that it starts with speech problems.
Since the motor neurons are affected, not the sensory neurons, the patient has no sensory disturbance.
The diagnosis of amyotrophic lateral sclerosis is rare at the onset of the disease, in fact the physician will ask the patient whether – previously, the patient has had some abnormal neurological symptoms (to establish the expected disease).
The patient is cared for by a neurologist specialist in nervous system diseases. In addition to clinically examining the patient, the doctor may prescribe additional examinations to be certain of the diagnosis: electromyogram (the main examination to establish this diagnosis), blood test, MRI … or even a lumbar puncture.
In France, there are specialized reference centers in the management of amyotrophic lateral sclerosis. There is one practically every CHU.
The main treatment against Charcot disease (or amyotrophic lateral sclerosis), is riluzole. This drug is considered to be the background treatment that is usually prescribed as soon as the diagnosis is established.
Besides this drug, others are available. But the majority of treatments for amyotrophic lateral sclerosis are mainly symptomatic, meaning that they intervene on the symptoms generated by the disease. Thus, medicines (such as quinine) will act against cramps, baclofen against spasticity, others (such as scopolamine) against the accumulation of saliva in the throat.
Other treatments are implemented, such as occupational therapy when everyday life becomes difficult to perform, speech therapy is necessary when speech and swallowing disorders occur. When swallowing problems are major, gastrostomy (allowing feeding directly through the stomach) can be considered. Respiratory rehabilitation is also in place.
In fact, the management of a patient suffering from Charcot’s disease is carried out by a multidisciplinary team, requiring the intervention of different health professionals.
For the patient, as for the relatives, this progressive disease is impressive, and we must not neglect all the aids, such as those provided by patient associations.