Amyotrophic lateral sclerosis (ALS)(also known as motor neuron disease, Charcot's disease, in English-speaking countries - Lou Gerig's disease) is a slowly progressive, incurable degenerative disease nervous system hitherto unknown etiology. It is characterized by progressive damage to motor neurons, accompanied by paralysis (paresis) of the extremities and muscle atrophy. At the end of the journey, patients die from the failure of the respiratory muscles. Amyotrophic lateral sclerosis should be distinguished from ALS syndrome, which can accompany diseases such as tick-borne encephalitis.

Risk factors

Every year, 1-2 out of 100,000 people develop ALS. Typically, the disease affects people between the ages of 40 and 60. From 5 to 10% of cases are carriers of the hereditary form of ALS; on the Pacific island of Guam, a special, endemic form of the disease has been identified. The vast majority of cases are not associated with heredity and cannot be positively explained by any external factors(past diseases, injuries, ecology, etc.).

Course of the disease

Early symptoms of the disease: twitching, cramps, muscle numbness, weakness in the limbs, difficulty speaking - are also characteristic of many more common diseases, so the diagnosis of ALS is difficult - until the disease develops to the stage of muscular atrophy.

Depending on which parts of the body are affected in the first place, they distinguish

• ALS of the extremities (up to three quarters of patients) begins, as a rule, with the defeat of one or both legs. Patients feel awkward when walking, ankle stiffness, stumble. Less common lesions upper limbs and it makes it difficult to perform normal activities that require flexibility of the fingers or the effort of the hand.
• Bulbar ALS manifests itself with difficulty speaking (the patient speaks "in the nose", nasal, poorly controls the volume of speech, later experiences difficulty in swallowing).

In all cases, muscle weakness gradually covers all more parts bodies (patients with the bulbar form of ALS may not live to see complete paresis of the limbs). Symptoms of ALS include signs of damage to both the lower and upper motor nerves:

• damage to the upper motor nerves: muscle hypertonicity, hyperreflexia, abnormal Babinsky reflex
• damage to the lower motor nerves: muscle weakness and atrophy, cramps, involuntary fasciculations (twitching) of the muscles.

Sooner or later, the patient loses the ability to move independently. The illness does not affect mental capacity, but it results in severe depression in anticipation of a slow death. In the later stages of the disease, the respiratory muscles are affected, patients experience interruptions in breathing, sooner or later their life can only be supported by artificial ventilation of the lungs and artificial nutrition... Usually, from the detection of the first signs of ALS to death, it takes from six months to several years. However, the well-known astrophysicist Stephen Hawking (born 1942) is the only known patient with an unambiguously diagnosed ALS (in the 1960s) whose condition stabilized over time.

see also

• Superoxide dismutase 1 is a gene associated with some cases of the disease.

Deaths from amyotrophic lateral sclerosis

• English: Full list on english wikipedia

Wikimedia Foundation. 2010.

See what "Lou Gehrig's Disease" is in other dictionaries:

SHARKO DISEASE- (Charcot-Geoffroy syndrome, Charcot-Kozhevnikov disease; first described by French neurologists JM Charcot, 1825-1893, and A. Joffroy, 1844-1908; in Russia described in 1883 by A. Ya. Kozhevnikov; synonyms - Lou Gehrig's syndrome, according to named H. Louis Gehrig ... encyclopedic Dictionary in psychology and pedagogy

The style of this article is unencyclopedic or violates the norms of the Russian language. The article should be corrected according to the stylistic rules of Wikipedia ... Wikipedia

A film by Dexter Fletcher was released in Belarus - a film adaptation of a real story about one of the most famous losers and at the same time heroes of sports.

Eddie Edwards is a chronic loser who once decided to compete in the Winter Olympics as a ski jumping jumper with little or no training. Having overcome all the difficulties, Edwards still got to the games in 1988 and, as expected, took the last place. Despite this, the clumsy boy with glasses and a funny mustache became a favorite of all fans and almost a national hero.

The filmmakers of "Eddie the Eagle" do not hide that their film is only partially based on the beautiful story of Eddie Edwards' fall. After looking at the picture and studying in detail the real information, we tried to figure out what was actually from the film, and what was invented for the sake of greater drama.

Is Hugh Jackman's character based on a real person?

Not. In the biography of Eddie Edwards, there is never a mention of the kicked out of the team trampoline Bronson Peary (Hugh Jackman), who later became Eddie's coach. This character is mostly fictional. The film reveals that Peary was a budding athlete until he became addicted to alcohol. In reality, Eddie Edwards studied ski jumping in Lake Placid under the guidance of two Americans, John Wiskom and Chuck Berghorm. Screenwriter Sean McAuley said that he was inspired by the stories of Eddie's coaches to create Jackman's character, but there is no direct connection between them and Bronson Peary.

Is it true that Eddie Edwards had no experience with ski jumping?

Not. The real Eddie was a much more experienced springboard than the guy we saw in the movie. Edwards actually worked as a plasterer, but for a while was fond of stunt jumping over cars and buses. In addition, he had a lot of experience in skiing, so at first he wanted to compete in this sport at the Olympics. By 1986, Eddie was practically broke, so he desperately looked for himself the new kind activities. "I had no money at all, so I had to choose a sport that did not require costs," Eddie said in one of his interviews. "I drove past the jumps in Lake Placid and I thought: kind of good." In the film, Eddie (played by Taron Edgerton) pushed a poster on the wall in his room to become a ski jumper.

Was Eddie really nearly disabled as a child?

Not really. Eddie has always been a fearless child and has always paid for his bravery. At the age of ten, he played for the football team as a goalkeeper and his tough playing style resulted in serious injury. knee joint... As a result, he had to wear plaster for three years. Then Eddie began to learn to ski and got into the British national team at the age of thirteen.

Was the real Eddie the only child in the family?

Not. The real Eddie Edwards has a younger sister, Lisa. In 2007, Eddie saved her life by donating bone marrow, which the girl needed for a donor transplant.

Is it true that Eddie lived in a mental hospital for a while?

Yes. Although this was not shown in the film, but in the real story of the athlete, the fact is really mentioned that, in order to save money, he moved into the ward of a Finnish mental hospital. While there, Eddie learned that he had qualified for the UK Olympic team. Later, his haters joked that his home was the best fit for him.

To make some money, Eddie constantly took part-time jobs as a gardener, nanny, hotel porter, and even a cook. The athlete drove his mother's car, wore a helmet given to him by the Italians, and took skis from the Austrian team (in the film, Hugh Jackman's character robbed a lost property office to find equipment for Eddie). He put on six pairs of socks for ski boots big size could stay on their feet. One day Eddie broke his jaw and instead of going to the hospital, he tied it up with a pillowcase and continued to go about his business.

Where did the nickname "Eddie the Eagle" come from?

When Eddie arrived at the 1988 Calgary Olympics, fans greeted him at the airport with posters "Welcome to Calgary, Eddie Eagle." This inscription got into the lenses of Canadian television people, so the nickname quickly went to the people. Then the name of Eddie appeared: in fact, the name of the trampoline is Michael Edwards.

Was Eddie really as awkward as the movie depicted?

Yes. One of the amusing incidents occurred when he tried to reach out to the fans who were meeting him in Calgary. "I walked in the direction of the posters, but did not notice the glass door and crashed into it with full swing, breaking my skis," said Eddie.

Is it true that Edwards only finished last in all competitions?

Yes. Eddie Eagle finished last in all three jumps at the Calgary Olympics, but managed to break his own record. But more importantly, he finished the competition without a single injury, which can already be considered a success. “You all won our hearts. Some of you flew like eagles,” said the organizer of the games Frank King at the closing ceremony.

Despite his defeats, was Eddie really a darling of the public and the press?

Yes. This moment in the film is shown most accurately in comparison with real story... Despite Eddie's lack of sports talent, many Olympics viewers expressed sincere sympathy for him, since they saw in him not some superhero, but an ordinary British boy, the same as all of them. "I think I became a kind of symbol of the sports spirit - a simple amateur guy made his way to the Olympics only because of his sincere love for sports," Eddie said. As in the film, this caused outrage in the circles of professional Olympians, who gave their sport almost their entire lives. They felt that Edwards was not worthy to compete at this level.

How was Eddie Edwards' life after the Olympics?

After performing at the games in 1988, Eddie was bombarded with invitations to various television shows, including the popular The Tonight Show with Johnny Carson. According to Eddie, just thanks to the contracts for these performances, he earned about 600,000 pounds in a year. As a plasterer by profession, Edwards again took up construction work for a while, but then there was a boom in motivational workshops and the former trampoline also began to make a living from it. He eventually sold the film rights to his life story. Eddie Edwards long became a part of British folklore as a heroic loser who never gave up on his dreams.

The film "Eddie the Eagle" can be watched in all Minsk cinemas until April 20.

Anton Kolyago,ByCard

Caridwan Hugh with her son Isaac (Isaac). Photo from the site dailymail.co.uk

Caridwan Hugh's interest in the topic was, of course, not accidental. Her son Isaac has Moebius syndrome. With this congenital anomaly there is no facial expression. There is no portrait of Isaac in her Rare Project. But there are many other children in whom the photographer is able to discern everything that makes up the usual childish charm - gaiety, cunning, mysteriousness, simplicity.

Each photo is accompanied by a small story about the child. But this is by no means a medical history, no! This is the story of relatives about what makes their baby rare and special - in addition to his diagnosis. So Hugh and the charity she founded, Same But Different, are trying to draw attention to the problems of these children and rare diseases at all.

“Many parents who agreed to take part in the project said they were completely isolated due to the child's illness,” says Hugh. - They were very glad that now the whole world will know about their children. After hearing the word "rare", most people conclude that this disease will not affect their family. But the statistics say something completely different. "

Today, on Rare Disease Day, we are publishing 10 child portraits by Wales, Caridwan Hugh, with stories from their parents.

Jake

Jake is a cheerful outgoing boy who loves meeting new people. He can easily walk up to a stranger and snuggle up to him. Jake loves his family and friends, as well as music and water. His favorite activities are singing karaoke and swimming.

Jake has - Angelman syndrome... This means a strong delay mental development, inability to dress independently, go to the toilet, etc. One must not take his eyes off him for a minute: the boy completely lacks a sense of danger.

Alex

Alex is an amazing child. His life is very difficult: he cannot sit, walk, pick up objects, eat on his own. And at the same time he remains happy. The boy loves to play with his older brother and watch the children's channel on TV. He generally loves people and communication. And also - the kid flirts with women! Anyone who sees the boy for the first time literally falls in love with him. And he has the most infectious laugh in the world.

Alex's diagnosis: glutaraciduria type I- congenital metabolic disorder. If it is not treated, the consequences will be the most severe - and first of all, the brain suffers.

Marie

This adorable girl mysteriously knows how to feel people. It is not known how, but she always knows when someone is upset or angry. Then she kisses this person, asks if everything is okay and tries to console him.

Marie WAGR syndrome(in Russian it is sometimes called the 11p chromosome deletion syndrome). The name of the disease is an abbreviation created from the first letters of the names of the most common symptoms. These children have problems with vision and learning, as well as a predisposition to many types of cancer.

James

The photo shows a determined, stubborn boy who loves to be in the spotlight. He has an amazing smile, a peculiar sense of humor and an indestructible love of life. James loves everything: school, music, any food, iPad and TV shows. He cannot sit still and cannot refrain from interfering in any conversation.

There is only one thing that James does not like: his wheelchair, without which you cannot go out.

The boy Coffin-Lowry syndrome... This disease affects the intellect, muscles, and skeletal structure.

Eddie

Edward is eight months old. He is the happiest baby in the world. Discovering the world, Eddie realizes how many wonderful things there are in it: food, water, mother's hands, a soft bed.

At 35 weeks pregnant, Eddie's mom was diagnosed with a large tumor on the left side of his brain. When he was born, doctors began to make diagnoses: right-sided paralysis, cortical visual impairment, West syndrome(infant epilepsy).

Nina

She is an incredibly gentle and kind girl. She is completely devoid of selfishness, but she is endowed with a very vivid imagination. Nina is shy in front of strangers, but she is very open and sincere with loved ones. She loves everything related to birds. This hobby manifested itself in the girl almost from birth, and no one knows what caused it.

Nina avoids bright lights loud sounds, unread books, balloons and crowds. Despite the fact that she shies away from strangers, one of her favorite things to do is to come up with stories about them, and then imagine them in their faces.

Nina has a delay in psycho-emotional development, a very strong photophobia and a whole range of digestive problems.

Percy

Percy has two brothers with whom he is inseparable. In general, he loves all people. Ready to chat and laugh endlessly.

The boy has a rare genetic abnormality - Prader Willie syndrome... This means a stop of the genes, and is expressed, in particular, in the fact that the patient experiences a constant feeling of hunger.

Alex

Alex is a home girl, she loves to spend evenings with her family, watching TV shows under chocolate candies... But she is not averse to sitting in a cafe for a cup of coffee, and recently made a long trip to American Disneyland. The girl is a fan of Mickey Mouse, his girlfriend Minnie, but most of all she loves the Cricket from Pinocchio. She is very kind, but sometimes she can make a rather caustic joke.

Her diagnoses: Leigh's disease(affects the central nervous system) and benign intracranial hypertension. She has already suffered several strokes and has serious developmental delays.

Lachlan

Lachlan is the most ordinary boy who loves the same as any of his peers. For example, Lego constructor.

But there are only five people like Lachlan on the planet, and in his native Great Britain he is the only one. The boy - periodic hyperthermia... In this condition, the body temperature is sharp and without apparent reasons falls (up to 28 degrees), and then fluctuates between 31 and 34 degrees for several days. The boy has already experienced three attacks, each of which has a detrimental effect on his health. He comes to his senses for a very long time and restores strength.

Parents know that there are four more of the same unique children living somewhere, but apart from this figure, there is no information about them. Even the countries in which families with such children live are unknown. Lachlan's mom and dad really hope that posting a photo of their son on the Internet will help them find these families.

Heidi

All girly - that's Heidi's element. Go to a cafe, paint and dress up, admire Disney princesses, play with dolls. She loves animals wholeheartedly - any. Swimming and horse riding.

Heidi Ehlers-Danloos syndrome, the third type. The disease is, in short, a lack of collagen. And to describe the symptoms briefly will not work: there are a lot of them. The disease causes constant pain in muscles and joints, muscle weakness, fatigue, and various disorders of the digestive system.

Despite the fact that there is no cure for this disease, it is possible to alleviate the child's condition. There is only one way out - operations. The first Heidi was made at the age of eight months, and even the parents will not count how many there were.

Translated by Ekaterina SAVOSTYANOVA

This syndrome was first described by a British physician neurologist named William John Adie, who noticed that some people have a very slow reaction of the pupils to light and other stimuli, or it is completely absent.

A characteristic feature of Adi syndrome (also known as Adi syndrome or tonic pupil) is that neurons in the ciliary ganglia degenerate. This leads to the appearance of deviations in the innervation of the pupil and eyelash muscles. That entails a deterioration in the connection between the organ and the central nervous system.

Reasons for violation

Adie syndrome can be congenital or acquired. The reasons that cause both variants of the development of the syndrome are considered the same. The disorder manifests itself most often in middle-aged women, on average fluctuating at around 30-35 years.

At the moment, not everything is known about Holmes Adie syndrome, but it is believed that the main reasons for its development are the following diseases:

• congenital;
• ocular herpes;
• progressive atrophy of the eye muscles;
• possible inflammation of the brain and its membranes (,).

The difference between the work of the affected pupils from a normally functioning organ is that they can very slowly, or not at all, react to a change in the light regime around them. Also, the development of the syndrome leads to deterioration and blurred vision.

The mechanism of the onset and development of the syndrome

As already mentioned above, at the moment, doctors cannot give an unambiguously clear answer to the question of what exactly this syndrome is caused by. According to numerous observations, it was concluded that its characteristics are very similar to cases when a person degrades in the work of the ciliary ganglia, which are responsible for connecting the muscles of the eye with the nerves located in it. The above were listed the most probable causes the appearance of a tonic pupil.

That is, the problem of the disease is clearly that the nerves and muscles in this system cease to perform their function correctly and either are not able to perceive signals from the outside world adequately, or are not able to transmit them to the central nervous system.

When a person becomes infected with infections that negatively affect the work of the ciliary ganglia, or they have a destructive mechanical effect, for example, all kinds of injuries, then similar symptoms are observed, as in the case of Adie's syndrome.

Difference between Adie and Argyll syndromes

In the field of eye diseases of a neurological nature, the syndrome is also widely known. It is also characterized by the fact that the pupils lose their ability to respond to the presence of light sources. However, this still retains the ability to focus on objects at different distances and the ability to react to an approaching object.

Most often, the syndrome is diagnosed in patients who are sick. On the early stages the disease can manifest itself rather weakly, when syphilis acquires a late, developed form, it becomes obvious.

Adie and Argyll syndromes should not be confused with each other, as they are not the same thing. In the case of Argyll syndrome, the cause of the problem is clearly an infection of the body with syphilis, that is, an infection. It is she, gradually developing and spreading throughout the body, and leads to this result.

If we talk about Addie's syndrome, then the causes of its occurrence lie in a completely different plane, although they have a very similar end result.

Clinic and diagnostics

The main symptoms that indicate the presence of a tonic-pupil are:

1. Very slow pupil response to changing lighting... Even if you directly shine a bright light source, for example, a flashlight, into a person's eyes, the same picture of inhibition of the reaction will be observed. In some cases, it is also possible that there is no reaction at all.
2. On the side where the pupil is prone to disease, it can be expanded and even deformed.
3. Slow response in convergence... There is no ability to focus on objects at different distances. When the patient looks at a nearby object, his pupil narrows rather slowly.
4. With a detailed examination, such phenomena are observed: hypersensitivity to vagotropic poisons, iris sphincter paralysis.

The photo shows a clear lack of reaction of the pupil to light.

In the presence of such symptoms, it is advisable to contact a specialist who will diagnose and check whether the disease is actually present.

Two methods are used for diagnosis:

1. Slit lamp examination.
2. Application of the drug Pilocarpine... It is dripped into the eyes and the reaction of the pupils is monitored after about 25-30 minutes. A healthy eye ignores this substance, while the patient will betray himself by constriction of the pupils.

These are the main methods for diagnosing this disease.

Treatment principles

To treat the syndrome and reduce the manifestations of its symptoms, the following methods are used.

Treatment with the already mentioned Polycarpin. By regularly burying their eyes, you can achieve some improvement in their condition. Doctors ascribe to the patient special reading glasses that correct the existing disorders.

In case of availability additional symptoms disease and associated abnormalities, other means and methods for therapy can be used.

It should be noted that the prognosis for this disease is positive - Adie's syndrome is safe and does not interfere with a person's normal life. No deaths have been reported among patients with this disorder.

Book: "Rare neurological syndromes and diseases" (V.V. Ponomarev)

Chapter 1. Edie's Syndrome

Edie syndrome (synonyms: pseudotabetic syndrome, Weil-Rey syndrome, Kerer-Edie syndrome, Holmes-Edie syndrome) was first described by W. Adie in 1931 and is one of the rare neurological syndromes. The main clinical manifestation Edie syndrome (SE) is myotonic type pupillary reflexes: slowing down or no reaction of the pupil to light while maintaining (or slightly slowing down) the reaction to accommodation and convergence. The myotonic reaction of the pupil can be unilateral or bilateral, be transient or persistent. The affected pupil is in a state of mydriasis, due to this, anisocoria arises. The pupil slowly narrows under the influence of pharmacological agents (pilocarpine). Violation of pupillary reactions in SE is combined with areflexia of the knee and Achilles reflexes. Individual manifestations of the disease can be expressed to varying degrees, depending on this, a complete and incomplete form of SE is distinguished.

The etiology and pathogenesis of SE have not been studied. In the literature, there is an indication of the herpetic etiology of the disease, provided that the herpes simplex virus persists in sensitive and autonomic neurons. There is an opinion about the autoimmune nature of SE due to the development of specific autoantibodies and its combination with myasthenia gravis.
The nosological affiliation of SE is discussed in the literature. The syndrome is described in traumatic brain injury, diabetes, alcoholism, metabolic disorders, endocrine (adrenal) insufficiency, Sjogren's syndrome, URT. According to E.P. Kharitonova, SE often accompanies various disorders of the sympathetic innervation of the eye, women are more often affected.

We observed 6 patients with SE (3 men, 3 women, age 25-61). In one case, this syndrome developed as the first manifestation of chronic URT. Here is an observation.

Patient K., 25 years old, a traffic controller, 6 months after a series of stresses, noticed general weakness, increased fatigue, and after another 3 months enlargement of the left pupil joined.

In the neurological status, there was a pronounced game of vasomotors, anisocoria, S> D, myotonic (direct and cross) reaction of the pupils to light, worse on the left. The reaction of the pupils to accommodation and convergence is vivid, there are no oculomotor disorders. The strength in the limbs is sufficient, the knee reflexes are inhibitory, there are no Achilles. Limb sensitivity is not impaired.

On examination: the fundus of the eye is normal. ENMG: a slight decrease in M-responses in the study of the median, peroneal, tibial nerves, the speed of the impulse along the studied nerves is normal. CSF: protein 3.9 g / l, cytosis 48-106 cells / l (100% lymphocytes). Pneumoencephalography: revealed a narrow ventricular system. Carotid angiography on the left without pathology. Diagnosed with Edie's syndrome.

Received prednisolone at a dose of 40 mg / day every other day. A month after discharge to the above clinical picture painful cramps joined calf muscles, weakness, rapid weight loss of leg muscles and facial asymmetry. Anisocoria, S> D, and myotonic reaction of the pupils to light were preserved in the neurological status. Diplegia facialis, mild distal paresis of the arms and moderate weakness of the legs, diffuse muscular hypotonia and hypotrophy of the extremities appeared. Tendon-periosteal reflexes on the hands are reduced, knee, Achilles are absent. Superficial sensitivity is changed in the distal type, deep muscle feeling in the feet is impaired. Soreness on palpation of the nerve trunks on the legs, positive symptoms of radicular tension. CSF: protein 2.36 g / l, cytosis 51-106 cells / l (100% lymphocytes), negative Wasserman reaction in CSF. Vibration sensitivity revealed palhypesthesia at all points of the study. Visual acuity OD / OS = 0.7 / 0.3 (myopic astigmatism), fundus is normal. Prednisolone was prescribed at a dose of 80 mg / day. Despite treatment, the condition continued to deteriorate. Weakness in the limbs increased to the degree of moderate distal paresis of the hands and plegia in the feet. In the CSF, the protein increased to 4.04 g / l, lymphocytic pleocytosis persisted (42-106 cells / l). After 6 months, on the background of continuing therapy with prednisolone, the process stabilized. During follow-up observation for 8 years, the patient's condition remained unchanged, sluggish distal tetraparesis remained, knee and Achilles reflexes were absent, anisocoria, S> D, myotonic reaction of the left pupil to light, I group of disability was established.

The above observation is of interest from the point of view of the onset of the disease in the form of Edie's syndrome. The spread of the demyelinating process to the roots and nerves of the extremities, facial nerves allowed to diagnose chronic upper respiratory tract infection. The existing protein-cell dissociation in the CSF indicated the activity of the process, the possibility of its further increase, which confirmed the observation of the patient.

The topical level of damage to the nervous system in SE has not been conclusively established. Currently, anisocoria and changes in pupillary reflexes are explained by selective damage to the parasympathetic preganglionic and postganglionic fibers of the oculomotor nerve. A differential diagnostic test with measuring the diameter of the pupil 30 minutes after instillation of a 0.1% solution of pilocarpine is proposed. Most authors emphasize the presence of autonomic dysfunction (up to 40%) in SE in the form of impaired sweating, changes in vasomotor and cardiovascular reflexes of the parasympathetic type. As rare autonomic disorder in SE, a persistent cough has been described, which, according to J. Kimber et al., may be caused by damage to the afferent and efferent pathways vagus nerve... These autonomic disorders are associated with symptoms of dysautonomy, which is also the case with Guillain-Barré syndrome. The reason for areflexia in SE is discussed in the literature. According to P. Martinelli et al. and G. Paveri et al. , areflexia can be associated with selective damage to monosynaptic afferent conductors or with dysfunction of large-diameter somatosensory fibers at the spinal level.

The differential diagnosis of SE is carried out with neurosyphilis (Ardzhil Robertson's syndrome), the consequences of an eye injury, and intracranial hematoma.

To date, no specific treatment for SE has been developed. As symptomatic therapy you can recommend vegetotropic drugs, electrophoresis with a 10% solution of calcium chloride according to Bourguignon. In the case of an established autoimmune nature of SE, it is preferable to prescribe prednisolone (or its analogs) at a dose of 1 mg per 1 kg of body weight (usually 60-80 mg) according to an alternating scheme every other day.

Thus, the issues of diagnosis and treatment of SE have not been finally clarified, and only modern methods surveys, the accumulation of factual material will contribute to their solution.