Amyotrophic lateral sclerosis (ALS) is an irreversible neurodegenerative disease characterized by primary damage to the upper and lower motor neurons (nerve cells that carry out motor coordination and maintain muscle tone).

The defeat of the lower motor neuron leads to a progressive decrease in tone and, as a consequence, muscle atrophy, while the defeat of the upper motor neuron leads to the development of spastic paralysis and the appearance of pathological reflexes, according to Pannochka, an Internet publication for girls and women from 14 to 35 years old.. net Amyotrophic lateral sclerosis was first described in 1869 by Jean-Martin Charcot. ALS is often referred to as Lou Gehrig's disease, after the famous baseball player who was diagnosed in 1939.

The disease is rare, however, the reliable incidence of ALS is unknown: in European countries, the incidence, according to various sources, ranges from 2 to 16 cases per year per 100,000 population, while international studies indicate 1–2.5 cases. Men get sick more often, manifestation usually occurs at the age of 58-63 years with a sporadic form, the hereditary variant of ALS often debuts at the age of 47-52 years.

Stephen Hawking - renowned scientist diagnosed with amyotrophic lateral sclerosis Every year, amyotrophic lateral sclerosis affects about 350,000 people worldwide, about half of whom die within 3-5 years from the moment of diagnosis..

Synonyms: amyotrophic lateral sclerosis, motor neuron disease, motor neuronal disease, Charcot's disease, Lou Gehrig's disease.

Amyotrophic lateral sclerosis - an incurable, steadily progressive disease.

Causes and risk factors The vast majority of ALS cases have an unclear etiology; genetic predisposition is traced in no more than 5-10% of cases.

To date, 16 genes have been reliably identified, the mutation of which is associated with the onset of the disease:.

SOD1 on chromosome 21q22 (encoding Cu-Zn-ion-binding superoxide dismutase), currently there are about 140 known mutations of this gene that can lead to the development of ALS;

TARDBP, or TDP-43 (TAR-DNA Binding Protein);

SETX at chromosomal locus 9q34, encoding DNA helicase;

VAPB (responsible for vesicle-associated protein B);

FIG4 (encodes phosphoinositide 5-phosphatase); and etc.

Most inherited cases of the disease are characterized by an autosomal dominant mode of inheritance. The mutation in this case is inherited from one of the parents, the likelihood of developing ALS is about 50%.

Autosomal recessive or dominant X-linked inheritance is much less common..

The main cause of amyotrophic lateral sclerosis is gene mutation The remaining 90-95% of cases of amyotrophic lateral sclerosis are sporadic: there are no cases of this disease in the families of patients. The role of external factors is unlikely here, although research on this topic is ongoing.

Forms of the disease There are several clinical forms of the disease:.

classical spinal form with signs of damage to the central and peripheral motor neurons of the upper or lower extremities (cervicothoracic or lumbosacral localization);

bulbar form, starting with disorders of swallowing and speech, movement disorders join later;

primary lateral form, manifested by a predominant lesion of the central motoneurons;

progressive muscle atrophy, when the leading symptoms of damage to peripheral motor neurons.

Rarely, the disease begins with loss of body weight, respiratory disorders, weakness in the upper and lower extremities on the one hand - this is the so-called diffuse debut of ALS.

Lou Gering, the legendary American baseball player, the New York Yankees, was diagnosed with amyotrophic lateral sclerosis in 1939. After that, he lived only 2 years.

The disease can have different rates of progression: fast (death within a year, is rare), moderate (duration of the disease is from 3 to 5 years), slow (longer than 5 years, is rare, in about 7% of patients).

Symptoms There is a widespread opinion about a rather long preclinical stage of the disease, which cannot be diagnosed at the current level of development of medicine..

A typical clinical picture of amyotrophic lateral sclerosis It has been suggested that during this period, from 50 to 80% of all motor neurons die, and under the circumstances, their function is taken over by the remaining motor neurons. As a result of functional overload (with depletion of the adaptive capabilities of nerve cells), the corresponding symptoms develop:.

muscle atrophy and decreased motor activity;

fasciculations (muscle twitching);

violation of fine motor skills;

change in gait, imbalance;

difficulty chewing, swallowing;

shortness of breath on light exertion, difficulty breathing while lying down;

inability to maintain a static pose for a long time;

convulsions;

pathological reflexes;

sagging feet;

psycho-emotional disorders (apathy, depression).

In ALS, 50-80% of all motor neurons die. There are no changes in the intellectual sphere in patients with amyotrophic lateral sclerosis, patients remain critical of the disease. Social activity is limited by decreased exercise tolerance, difficulty in self-care, and impaired fluency.

neboleem. net.