Jan 27, 2021
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What is Lou Gehrig’s disease?

Lou Gehrig’s disease in the domestic medical literature is designated by the terms “amyotrophic lateral sclerosis (ALS)”, “Charcot-Kozhevnikov’s disease”, “motor neuron disease”, “motor neuronal disease”. This is a progressive, incurable disease of the central nervous system, in which motor neurons are damaged, accompanied by paralysis of the limbs and muscle atrophy. This disease is also called Stephen Hawking’s disease: the English theoretical physicist fell ill with ALS at the age of 21 and, contrary to the forecasts of doctors, lived to be 76 years old.

According to the Big Medical Encyclopedia (BME), amyotrophic lateral sclerosis develops more often at the age of 40 years, but they get sick at 17-35 years old. Studies show that ALS accounts for 0.2-0.7% of all diseases of the nervous system, that is, it is a fairly rare disease.

What are the symptoms of Lou Gehrig’s disease?

According to BME, Lou Gehrig’s disease is an organic disease of the nervous system, which is based on lesions of the anterior horns of the spinal cord (round and wide anatomical structures of the spinal cord, consisting of motor neurons that transmit impulses to muscles), pyramidal tract, nerve roots and peripheral nerves.

Depending on the nature of the main symptoms, four forms of the disease are distinguished: lumbosacral, cervicothoracic (both – ALS of the extremities), bulbar (from lat.bulbus medullae spinalis – medulla oblongata – posterior part of the brain, this form occurs due to lesion cranial nerves) and high. In all forms, the first symptoms are similar: twitching, cramps, muscle numbness, weakness in the limbs, difficulty speaking. However, these clinical manifestations are also characteristic of more common diseases, therefore, the diagnosis of Lou Gehrig’s disease in the early stages is difficult, more often it is detected already at the stage of muscle atrophy.

Early signs – damage to the anterior horns of the spinal cord and generalization of the process that occur in the first six months or a year of the disease – can be detected using electromyography. At this stage, violations of protein metabolism and amino acid content are also noted. The diagnosis is based on a combination of anterior nerve cell lesions and conduction systems.

The lumbosacral form of the disease is characterized by damage to the lumbar and sacral segments of the spinal cord. As a rule, it begins with the defeat of one or both legs: there is a feeling of awkwardness when walking, the ankle loses its flexibility, patients stumble more often. This form of ALS is manifested by muscle atrophy and paresis (decreased muscle strength) of the feet. The process is bottom-up. The duration of the disease is about 10-12 years.

The cervicothoracic form is less common. It affects the cervical and thoracic segments of the spinal cord. The disease begins with paresis of the hands. Patients find it difficult to perform normal activities that require flexibility of the fingers or hand effort. Further, the process can spread to the higher and lower parts of the nervous system. The duration of this form of the disease is 8-10 years.

In the bulbar form of ALS, the nuclei of the IX, X and XII pairs of cranial nerves are affected: glossopharyngeal, vagus and hypoglossal. Their nuclei are located in the medulla oblongata. The disease is manifested by difficulty speaking (a person begins to nasal, poorly controls the volume of speech), swallowing disorders, damage to the muscles of the tongue, breathing. The duration of this disease is 4-6 years.

With a high form of ALS, the pathways from the cerebral cortex to the stem structures are affected. The disease is characterized by pronounced spasticity (a state of increased muscle tone) of the muscles of the limbs, pseudobulbar disorders (similar in clinical presentation to bulbar syndrome, but arising from damage to other brain structures) and moderate muscle atrophy. The duration of the disease is about 4-6 years.

In all four forms of the disease, muscle weakness gradually affects more and more parts of the body. At the same time, many patients with bulbar form do not live to see complete paresis of the limbs. A person sooner or later loses the ability to move independently. In the later stages of the disease, the respiratory muscles are affected, and respiratory failure develops. In this case, the disease does not affect mental abilities.

Lou Gehrig’s disease is incurable, so patients are given supportive therapy to relieve symptoms. There is also a drug that slows down the progression of the disease. In the later stages of the disease, it becomes necessary to use equipment to facilitate breathing during sleep, and after a complete failure of the respiratory muscles, a round-the-clock use of a ventilator is required.

What causes Lou Gehrig’s disease?

Amyotrophic lateral sclerosis was first described in 1869 French psychiatrist Jean-Martin Charcottherefore in France the disease was called Charcot’s disease. In 1883, amyotrophic lateral sclerosis was described in Russia Russian neuropathologist, MD Alexey Kozhevnikov

Despite many years of research, the etiology of ALS has not been finally clarified. Some authors consider the disease hereditary, others – infectious.

Familial cases of the disease are known, which are probably hereditary. Carriers of the hereditary form of ALS are 5-10% of cases. On the Pacific island of Guam (Mariana Islands), a special form of the disease has been identified in the Chamorro tribe: approximately 10% of its representatives die from this disease.

In favor of the infectious-viral concept, in particular, the electron microscopic studies carried out Soviet neuropathologist, Doctor of Medical Sciences, Professor Nikolai Konovalov… They made it possible to identify particles similar to viral bodies in the medulla oblongata of a patient with ALS.

A recent study by scientists from Johns Hopkins University in Baltimore has established the molecular genetic mechanism underlying Lou Gehrig’s disease. Scientists have found that the disease develops as a result of the appearance in cells of a large amount of four-stranded DNA and RNA in the C9orf72 gene. This leads to disruption of the transcription process (transfer of genetic information from DNA to RNA), and, consequently, protein synthesis. Meanwhile, the question remains about how exactly these molecular changes ultimately lead to neuronal degradation.

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