Amyotrophic lateral sclerosis: symptoms,treatment, diagnosis, prognosis

Update: December 2018

Amyotrophic lateral sclerosis or Lou Gehrig’s disease is
rapidly progressive disease of the nervous system,
characterized by damage to the motor neurons of the spinal cord,
cortex and brainstem. Also in the pathological process
the motor branches of the cranial neurons are involved
(trigeminal, facial, glossopharyngeal).

Epidemiology of the disease

Diseases are extremely rare, about 2-5 people per
100,000. It is believed that men get sick more often after 50 years. Lou’s disease
Gehrig makes no exceptions for anyone, she amazes people of different
social status and various professions (actors, senators,
Nobel laureates, engineers, teachers). Most famous
The patient was baseball world champion Loi Gering, in whose honor
the disease got its name.

In Russia, amyotrophic lateral sclerosis has received wide
Spread. Currently the number of sick people
has approximately 15,000–20,000 among the population. Among the famous
people of Russia with this pathology, you can note the composer
Dmitri Shostakovich, politics of Yuri Gladkov, pop performer
Vladimir Migulyu.

Causes of amyotrophic lateral sclerosis

The basis of the disease is the accumulation of pathological
insoluble protein in the motor cells of the nervous system resulting in
to their doom. The cause of the disease is currently unknown, but
There are many theories. The main theories include:

  • Viral – this theory was popular in the 60-70s of the 20th century, but
    I did not find confirmation. US and USSR scientists conducted experiments on
    monkeys, introducing them to the spinal cord of sick people. Other
    researchers have tried to prove the involvement of the polio virus in
    disease formation.
  • Hereditary – in 10% of cases the pathology is hereditary
    character;
  • Autoimmune – this theory is based on the detection
    specific antibodies that kill motor nerve cells.
    There are studies that prove the formation of such antibodies on
    background of other serious illnesses (for example, in lung cancer or
    Hodgkin’s lymphoma);
  • Genetic – in 20% of patients, gene disorders are detected,
    encoding a very important enzyme Superoxide dismutase-1, which
    converts superoxide toxic to nerve cells into
    oxygen;
  • Neural – British scientists believe that in development
    diseases are implicated glia elements, that is, cells that
    provide vital activity of neurons. Studies have shown that
    with insufficient function of astrocytes, which remove glutamate from
    nerve endings, the likelihood of Lou Gehrig’s disease
    increases tenfold.

Classification of amyotrophic lateral sclerosis:

By frequency of occurrence: By inheritance:
  • sporadic – isolated, unrelated cases
  • family – patients had family ties
  • autosomal recessive
  • autosomal dominant
According to the level of damage of the central nervous system: Nosological forms of the disease:
  • bulbar
  • cervical
  • chest
  • lumbar
  • diffuse
  • respiratory
  • Classic ALS
  • Прогрессирующий bulbar паралич
  • Progressive muscular atrophy
  • Primary lateral sclerosis
  • West Pacific Complex (BAS-parkinsonism-dementia)

Symptoms of amyotrophic lateral sclerosis

Any form of illness has the same beginning: patients complain of
increasing muscle weakness, reducing muscle mass and
appearance of fasciculations (muscle twitches).

The bulbar form of ALS is characterized by symptoms of affection.
cranial nerves (9,10 and 12 pairs):

  • In patients with speech becomes worse, pronunciation, it becomes hard
    wiggle your tongue.
  • Over time, the act of swallowing is disturbed, the patient is constantly
    choked, food can pour out through the nose.
  • Patients feel involuntary language twitching.
  • The progression of ALS is accompanied by complete atrophy of the muscles of the face.
    and neck, patients have no facial expressions, they cannot
    open mouth, chew food.

Шейно-chest вариант болезни поражает, в первую очередь,
upper limbs of the patient, symmetrically on both sides:

  • Initially, patients feel the deterioration of the functionality of the brushes,
    it becomes harder to write, play musical instruments,
    perform complex movements.
  • At the same time, the muscles of the arms are very tense, the tendon
    reflexes.
  • Over time, weakness spreads to the muscles of the forearm and
    shoulder, they will atrophy. Upper limb resembles a dangling
    whip.

The lumbosacral form usually begins with a feeling of weakness.
in the lower limbs.

  • Patients complain that it became harder for them to do the job while standing
    on your feet, walk long distances, climb
    steps.
  • Over time, the foot begins to sag, the muscles atrophy
    legs, patients can not even stand on their feet.
  • Pathological tendon reflexes (Babinski) appear. Have
    incontinence of urine and feces develops.

No matter which option prevails in patients at the beginning
disease, the outcome is still one. The disease is progressing steadily,
extending to all the muscles of the body, including respiratory.
When the respiratory muscles fail, the patient begins to need
artificial ventilation of the lungs and constant care.

In my practice I observed two patients with ALS, a man and
woman Distinguished by their red hair and a relatively young age.
(up to 40 years). Outwardly, they were very similar: no, and a hint of the presence of
muscles, amimic face, always open mouth.

Such patients die in most cases from concomitant
diseases (pneumonia, sepsis). Even with proper care from them
bedsores develop (see how and how to treat bedsores),
hypostatic pneumonia. Aware of the brunt of his
diseases, patients fall into depression, apathy, cease
interested in the outside world and their loved ones.

Over time, the patient’s psyche is exposed to strong
changes. The patient I watched throughout the year was different
capriciousness, emotional lability, aggressiveness,
incontinence. Conducting intellectual tests showed
decrease in his thinking, mental abilities, memory,
attention.

Diagnosis of amyotrophic lateral sclerosis

The main diagnostic methods include:

  • MRI of the spinal cord and brain – the method is pretty
    informative, identifies atrophy of the motor regions of the brain and
    degeneration of pyramidal structures;
  • cerebrospinal puncture – usually reveals normal or
    high protein content;
  • neurophysiological examinations – electroneurography (ENG),
    electromyography (EMG) and transcranial magnetic stimulation
    (TCMS).
  • molecular genetic analysis – gene studies,
    encoding Superoxide dismutase-1;
  • biochemical blood test – reveals an increase of 5-10
    times creatine phosphokinase (an enzyme formed during muscle breakdown),
    a slight increase in liver enzymes (ALT, AST),
    accumulation of toxins in the blood (urea, creatinine).

What happens at ALS

Due to the fact that ALS has similar symptoms with other diseases,
Differential diagnosis is performed:

  • заболевания головного мозга:  опухоли задней черепной
    fossa, multisystem atrophy, dyscirculatory encephalopathy
  • muscle diseases: oculopharyngeal myodystrophy, myositis, myotonia
    Rossolimo-Steinert-Kurshman
  • systemic diseases
  • diseases of the spinal cord: lymphocytic leukemia or lymphoma, tumors
    spinal cord, spinal amyotrophy, syringomyelia, etc.
  • peripheral nerve diseases: Personage-Turner syndrome,
    neuromyotonia Isaacs, multifocal motor neuropathy
  • myasthenia syndrome, Lambert-Eaton disease
    neuromuscular synapse

Treatment of amyotrophic lateral sclerosis

Treatment of the disease is currently ineffective.
Medications and proper patient care only prolong
life expectancy without providing full recovery.
Symptomatic therapy includes:

  • Riluzole (Rilutec) is a well-proven drug in
    USA and UK. The mechanism of its action is
    blocking glutamate in the brain, thereby improving performance
    Superoxide dismutase-1.
  • RNA interference is a very promising treatment for ALS,
    the creators of which were awarded the Nobel Prize in
    medicine. The technique is based on blocking the synthesis
    abnormal protein in nerve cells and their obstruction
    subsequent death.
  • Stem cell transplantation – studies have shown that
    stem cell transplantation into the central nervous system
    prevents the death of nerve cells, restores neural
    connection, improves the growth of nerve fibers.
  • Muscle relaxants – eliminate muscle cramps and twitches
    (Baclofen, Mydocalm, Sirdalud).
  • Anabolics (Retabolil) – to increase muscle mass.
  • Anticholinesterase drugs (Prozerin, Kalimin,
    Pyridostigmine) – prevent the rapid destruction of acetylcholine in
    neuromuscular synapses.
  • Vitamins of group B (Neyrorubin, Neurovitan), vitamins A, E, C –
    These tools improve the conduct of the impulse along the nerve.
    fibers.
  • Broad-spectrum antibiotics (cephalosporins 3-4
    generations, fluoroquinolones, carbopenems) – shown during development
    infectious complications, sepsis.

In the complex therapy necessarily include feeding through
nasogastric tube, massage, exercise with a doctor, physical therapy, consultations
psychologist.

Forecast

Sadly, but the prognosis for amyotrophic lateral sclerosis
unfavorable. Patients die in just a few months.
or years, the average life expectancy of patients:

  • only 7% live more than 5 years
  • at bulbar debut – 3-5 years
  • with lumbar – 2.5 years

More favorable prognosis in hereditary cases
заболевания, ассоциирующихся с  мутациями в гене
superoxide dismutase-1.

The situation in Russia is overshadowed by the fact that patients are not
proper assistance, as indicated by the fact that Ryluzot is a drug
slowing the course of the disease, until 2011 in Russia was not even
registered, and only in the same year the disease itself was
listed as “rare”. But in Moscow there are:

  • The Fund for Aid to Patients with Amyotrophic Lateral Sclerosis
    Marfo-Mariinsky Center of Mercy
  • Charitable Foundation G.N. Levitsky for ALS patients

In the end I would like to add about the charity event Ice
Bucket Challenge, which took place in July 2014. She was
aims to raise funds in support of patients with lateral
amyotrophic sclerosis and got quite wide
Spread. The organizers managed to collect over 40 million
dollars.

The essence of the action was that a person either pours a bucket
icy water and captures it on video, or donates
a certain amount of money to a charitable organization. The action has become
quite popular due to the participation of popular artists in it,
actors and even politicians.

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