Genetic diseases

Lou Gehrig's disease

disease Charcot

Lou Gehrig Lou Gehrig's disease - a pathological process that affects the neurons of the central and peripheral parts of the central nervous system.This pathological anomaly has clinical and genetic heterogeneity, with a fatal outcome.Lou Gehrig's disease is one of the diseases, called "motor neuron disease" (MND), at which the loss of motor neurons in the first place.

The disease is rare in the ratio of 1: 100,000 patients per year, which is not typical for the endemic area.

Lou Gehrig's disease - a degenerative pathology, that selectively affects the central neurons (cortical), and then - peripheric (perednerogovye and bulbar).

Lou Gehrig's disease causes

Amyotrophic lateral sclerosis (Lou Gehrig's disease) was discovered back in 1847, and a description of clinical symptoms related to 1869.But the most active is the disease of the nervous system began to study in the 90-ies of XX century.

Lou Gehrig's disease is considered to be a family pathology, although there are cases and

sporadic, which proved that the main cause of amyotrophic lateral sclerosis considered mutations occurring in the gene superoxide dismutase.Basically, these mutations were found in 20% of families with this diagnosis, but the role of this gene in sporadic mutations are not yet fully defined.

Lou Gehrig's disease is the most frequent pathologies progressive motor neurons and is one of the most severe degenerative central nervous system abnormalities.It was found that women in America and Europe suffer from this disease is much less than men.A family etiology cases occur in 5-10% of cases, so basically characteristic pattern of sporadic disease.

in the development of Lou Gehrig's disease, as well as other diseases in which lesions are found motor neurons, are considered as the main cause of infectious and toxic diseases caused by certain virus that has a high neurotropic.In addition, Lou Gehrig's disease usually develops in 50 years.

Lou Gehrig's disease symptoms

One of the most important clinical symptoms of the initial stage of Lou Gehrig's disease is asymmetrical muscle atrophy progression.The disease can begin with any muscle group, then defeat it becomes generalized.There are several types of paralysis.These include cervicothoracic, pseudobulbar, bulbar and lumbosacral.The lethal outcome occurs in a few years, after involvement in the process of progressive respiratory muscle nature.

Very often, almost 40% of the typical picture of Lou Gehrig's disease is muscle weakness of any one of the upper extremities.Defeat begins with a brush, followed by rapid progression of the disease.The patient has difficulty in the thumb and index finger, as is disrupted fine motor control.This manifests itself in difficulty picking up objects during dressing, especially when zastёgivanii buttons.During the primary lesion arm, pointed out the problems with the letter as well as in everyday life.

For a typical characteristic of the disease Charcot steady involvement of other muscles of the limbs, and then proceeds to defeat the other hand.It precedes the paralysis of the lower limbs and bulbar muscles.

Sometimes Lou Gehrig's disease begins to develop with the facial muscles, affects the tongue or, conversely, muscles of the trunk.Therefore, involving new muscles in a progressive process, the disease is characterized by short duration of human life.This is especially true bulbar form, in which patients do not live to paralysis of the legs.Relatively favorable is the lumbosacral form.Bulbar and pseudobulbar palsy manifested symptoms of dysarthria and dysphagia, followed by respiratory disorders occur.

for all forms of Lou Gehrig's disease is characterized by an increased mandibular reflex.Dysphagia often occurs after ingesting liquid food than after the firm.Gradually weaken chewing muscles, there is a drooping of the soft palate and tongue atrophy.Patients with these symptoms can not swallow, say the sounds they are marked generalized convulsions.

Muscle atrophy is the electoral defeat.For example, in the hands - a muscle at the base of the thumb and forefinger, intercostals and deltoid;on legs - only those muscles that perform bending on the rear side of the foot;bulbar - the muscles of the palate and tongue.

very rare clinical symptoms of the disease Charcot considered the defeat of the eye muscles.Furthermore, patients with amitroficheskom lateral sclerosis, immobilized even absent pressure sores, which is peculiar feature of this disease.Also described are cases where the process of paralysis equally involved motoynery both upper and lower, which dominates certain pyramidal or perednerogovye syndromes.

Lou Gehrig's disease treatment

for the primary treatment of Charcot disease, it is important to slow progressive disease process and prolong the period in which the patient will retain the ability to self-service.And the need to reduce the characteristic symptoms and expressed support as long as possible a stable level of life of the patient.

hospitalization in patients subject if necessary to carry out an initial survey to accurately diagnose the disease, or of gastrotomy.

Currently, only one drug was developed that significantly slows progression of Lou Gehrig's disease - is Riluzole.The use of this drug prolongs the life of patients by an average of three months.He was appointed strictly on the evidence, after confirmation of the diagnosis, but while excluding other causes of injury motoynerov and if Lou Gehrig's disease is characterized by the duration of at least five years, is not available tracheostomy and forced vital capacity of the lungs in 60%.Assign lifelong Risoul 100 mg per day, with constant control of hepatic transaminases every three months to avoid joining a hepatitis drug etiology.

Conduct pathogenetic treatment of Lou Gehrig's disease using Ksaliprodena, protivoparkinsonskih funds, immunomodulators, antioxidants, Cerebrolysin was ineffective.Therefore, palliative therapy is trying to stop the progression of depression, dysphagia, fasciculations, spasticity and dysarthria.To improve muscle metabolism prescribed courses Carnitine, L-carnitine, creatine for two months, three times a year.In order to make it easier for patients to walk, doctors recommend only wear orthopedic shoes, and if necessary to use a cane and a walker.

Appointment gastrotomy improves the condition of the patient and prolongs his life.But tracheostomy and artificial ventilation of the lungs - a sentence and the last stage of the disease.As a rule, they signal the imminent deaths.

prognosis of the disease Charcot always unfavorable.Life expectancy at lumbosacral shape - up to three years, with bulbar - up to four, but mainly with the disease, patients do not live more than five years.

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