Amyotrophic side Sclerosis

The amyotrophic side sclerosis (SLA) or disease of Charcot is a neurological disease relatively frequent, of unknown cause, dark forecast. It relates to the two sexes, and its incidence increases with the age as from 40 years. With the the United States, one names it also disease of Lou-Gehrig, of the name of a player of famous Base-ball, died of this disease in 1941.

It should not be confused with a disease of name and symptoms nearby, but of less serious evolution, the Maladie of Charcot-Marie-Tooth.

Anatomically, it is due to a progressive degeneration of the driving neurons of the cerebral Cortex and former horn of the Spinal-cord, associated with a destruction of the pyramidal Faisceau and Faisceau géniculé.

The disease

This pathology includes/understands two principal clinical forms: a form known as “spinale”, beginning with the Distalité from the members, and a form known as “bulbar”, beginning in the territories from in bulbar (Swallowing, phonation, motricity of the language). However, the evolution of the attacks tends to spread with the whole of the driving territories, and the distinction between these two types is not always obvious at the time of the Diagnostic. The women present statistically more bulbar forms than the men.

Whatever the territories concerned, the initial Symptomatologie appears by the coexistence of central driving disorders (pyramidal Syndrome: hyperréflexie, spasticity) and of attacks peripheral neurogenes - Fasciculation S, Cramp S, muscular loss of force, muscular cast iron (“Amyotrophie”). It is important to note that there does not exist any sensitive disorder in this disease.

The evolution is capricious, it can extend from a few months to several years (intermediate duration being lower than four years). It is characterized by a Paralysie of progressive installation, accompanied by amyotrophie. The attack of the respiratory function generally conditions the forecast.

A pseudo-bulbar syndrome (spasmodic laughter and tears) can occur. An attack of the cognitive functions, with type of temporal insanity fronto (DFT), meets sometimes. In certain forms Hereditary S, a family member can develop either an insanity, or a SLA.

It is finally necessary to distinguish the forms known as “sporadic” (distribution randomly in the population) from the family forms. The first signs of a hereditary SLA occur statistically earlier (46 years on average) that sporadic forms (56 years on average).

Epidemiology

The incidence of the disease ranges between 1 and 3 for: 100000 per annum. Its Prévalence is from 5 to 8 for: 100000. The peak of incidence ranges between 55 and 70 years. The men ratio/women is between 1,3 and 2 (it tends to be equalized) The recessive autosomic Transmission currently includes/understands three identified genes:

the other diseases in connection with a pathological change of the gene ALS2 include/understand: the primitive side Sclerosis, the ascending family spastic Paraplegia at early beginning and a particular form of amyotrophic side sclerosis the youthful amyotrophic side Sclerosis.
the pathological change of the gene SPG20 is also responsible for the Syndrome of Troyer.

Transmission related to X

a S.L.A with transmission related to the X was found in a family

Diagnosis

Strict criteria of diagnosis were established mainly for research:

clinical, electric or anatomo-pathological Evidence obvious of attack of the peripheral driving neuron and clinical evidence of attack of the central driving neuron and progressive appearance of clinical sign in other areas with
the absence of the electric or anatomo-pathological which can explain an attack of the peripheral and/or central driving neuron and a cerebral imagery not allowing to explain clinical signs or electric signs.

The neurological examination must highlight signs of attack of the peripheral and/or central driving neuron in at the month four areas: trunk cerebral, cervical, thoracic and lumbar.

Complementary examinations

The complementary examinations are especially used to eliminate possible diagnoses differential.

Electromyogram: it finds a syndrome diffuse peripheral neurogene, without deceleration speeds of conduction nor block proximal. It confirms the private clinic, detects infraclinic attacks and draws aside from other peripheral neuropathies.
IRM of marrow: normal (what makes it possible to eliminate the mechanical attacks from the Spinal-cord).
Analysis of the céphalo-rachidian Liquid by lumbar Puncture: normal.
the CPK are increased
the hepatic enzymes are disturbed
the scan shows a medullary compression

Evolution

It is done towards an inexorable degradation, leading in 50% of the cases to the death in the three years after the beginning of the disease.

Treatment

The riluzole is the only treatment whose effectiveness is recognized to date, but it prolongs the survival of the patients only 3 months surroundings. However, other molecules are currently with the test).

The treatment is thus primarily symptomatic:

Kinesitherapy and specific equipment to slow down the progression of the driving deficit,
Orthoepy for the hoop nets dysarthric (turbid engines affecting the realization of the word) and of swallowing,
Fight against the bronchial infections by antibiothérapie (in order to avoid the aggravation of a deterioration of the respiratory function),
symptomatic Treatment Drug them of cramps and spasticity related to the pyramidal syndrome,
Gastrostomie in the event of severe disorders of the Swallowing, even poses of a gastric probe with residence,
mechanical Ventilation in the event of attack of the muscle of breathing: the diaphragm,
Dealt with of the depressive syndrome frequent.

See too

Disease of Charcot-Marie-Tooth

Others

In addition to Lou Gehrig, the physicist Stephen Hawking, the actor David Niven and the guitarist Jason Becker (or were) are reached disease. It is also the case of the French écrivaine Florence Bouhier.

Sources

References

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