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The sad news spread around the world about the death of the famous British astrophysicist Stephen Hawking, who passed away at the age of 76. He was the most famous theoretical physicist in the world, he formulated many groundbreaking concepts and scientific hypotheses, especially in astrophysics. Hawking suffered from amyotrophic lateral sclerosis. For this reason, for most of his life, he was condemned to a wheelchair, and he communicated with the world using a speech synthesizer. This disease attacks insidiously and there is no cure for it.
What is Amyotrophic Lateral Sclerosis?
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease. It most often attacks men, leads to paralysis of motor neurons, gradual impairment or atrophy of muscles and paresis of various parts of the body. Until now, it has not been established why some people suddenly develop amyotrophic lateral sclerosis (ALS). Genetic mutations account for only 5 to 10 percent. cases of this disease. Its first symptoms are problems with controlling the hand muscles. Then there is paresis of the legs. During the course of the disease, patients have less and less control over their muscles. The disease is incurable and death occurs due to the weakening of the respiratory muscles. In young people, it is diagnosed much less frequently, but it happens – it was the case Lou Gehringa – died 2 years after diagnosis, at the age of 38.
U Stephen Hawking he was 21 years old when he was diagnosed with amyotrophic lateral sclerosis. Back then, doctors gave him 2 to 3 years to live. Over time, he was unable to get out of bed on his own. Speech has become slurred, making it difficult for him to communicate with people. As a result of pneumonia, he underwent a tracheotomy, as a result of which he lost his speech. Later, the disease made him almost completely paralyzed, he moved in a wheelchair, and he communicated with the outside world using a speech synthesizer, into which he entered statements using a virtual keyboard. The course of Hawking’s ALS was unusual. The average survival time from the onset of disease symptoms is 3 years, however, it happens that the patient lives longer than 10 years. Hawking had been suffering from it for over fifty years.
He was also among the famous ALS sufferers Anthony Senerchiawho has fought the disease for 14 years. In 2014, he inspired the whole world with the Ice Bucket Challenge, which raised as much as $ 115 million for research allowing for progress in the treatment of this deadly neurodegenerative disease.
Amyotrophic lateral sclerosis (ALS) – symptoms
Damage to peripheral nerve fibers leads to:
- muscle wasting
- muscle weakness,
- the appearance of muscle tremors.
The type and severity of the first symptoms of amyotrophic lateral sclerosis is very individual. There may be, for example, weakening of the hand and shoulder muscles, which at the beginning are limited to only one hand, with time attacking the other limb as well. If your central nervous system is damaged in the early stages of ALS, you may notice an increase in muscle tone (spasticity). Most often, the disease progresses slowly over the years, and its course is mild (the disease attacks the motor nerves, while mental performance remains intact).
Amyotrophic lateral sclerosis makes the patient’s speech monotonous, and uttering any words is an enormous effort for him. It only takes a few months for speech problems to develop into problems with swallowing. The consequence of this condition are problems with eating, biting or chewing, which usually result in malnutrition of the patient. Some may even develop excessive drooling. In addition, muscle failure in ALS causes secretion in the airways that is difficult to remove. Over time, respiratory failure develops and lungs become infected. In addition to all the symptoms of ALS, it is worth mentioning depression, insomnia and emotional disorders that often accompany the disease.
Patients with this ailment are also doomed to pain that occurs as a result of muscle cramps, spasticity or being in quite uncomfortable positions. Especially stress, a slight change in temperature and depression intensify the pain. It is worth mentioning that people with ALS very often struggle with mood swings, anxiety and insomnia, which may be caused, for example, by hypoxia and progressive respiratory failure.
What are the forms of amyotrophic lateral sclerosis?
We divide Amyotrophic Lateral Sclerosis into three types:
- peripheral sclerosis – damage to the peripheral neuron;
- bulbar sclerosis – characterized by problems with swallowing and articulation, atrophy of the tongue muscles and weakness in the limbs;
- pyramid sclerosis – increased muscle tension, tremors and Babinski’s symptom.
A hereditary amyotrophic lateral sclerosis (ALS)?
If one of our loved ones has developed amyotrophic lateral sclerosis, the likelihood that other family members will get the disease is low. Nevertheless, the genetic background of the ailment was proven in 5%. disease cases. Therefore, if several members of the same family become ill with ALS, it will be necessary to test for hereditary burden. Currently, there is no method that can diagnose ALS before its first symptoms appear.
Amyotrophic lateral sclerosis – diagnosis
The doctor who diagnoses amyotrophic lateral sclerosis (ALS) is a neurologist, and a visit to this specialist requires a referral from another doctor (e.g. family doctor). The diagnosis of ALS is based on electrophysiological tests (electromyography, electroneurography) and imaging tests, e.g. central nervous system resonance. The specialist often orders a blood test to analyze GM1 antibodies and the cerebrospinal fluid. The diagnosis of the disease (differential diagnosis) should take into account, inter alia, pseudomembrane syndrome, multiple sclerosis, and myasthenia gravis. In a situation where there is a suspicion of hereditary disease – genetic tests are performed. The appearance of clinical symptoms of damage to the peripheral and central motor neurons in the bulb and in two other segments of the spinal cord or trauma in the three spinal segments – indicates disease (according to EL Escorial SLA).
Treatment of amyotrophic lateral sclerosis (ALS)
Due to the lack of a tangible cause for amyotrophic lateral sclerosis (ALS), no effective treatment has yet been developed. Therapy used in ALS patients is aimed at alleviating the symptoms and improving the patient’s quality of life.