“In MS, the immune system attacks the protective sheath that covers nerve fibers, known as myelin. This interrupts communication between the brain and the rest of the body. Eventually, the disease can cause permanent damage of the nerve fibers.
There’s no cure for multiple sclerosis. However, there are treatments to help speed the recovery from attacks, modify the course of the disease and manage symptoms.”
MAYO CLINIC (Multiple sclerosis – Symptoms and causes – Mayo Clinic)
To understand Multiple Sclerosis (MS) lets understand first it attacks the nervous system at the what we call the myelin shealth. The myelin sheath does this first the Myelin is a fatty white substance that surrounds the axon of some nerve cells, forming an electrically insulating layer. It is essential for the proper functioning of the nervous system. It is an outgrowth of a type of glial cell. The production of the myelin sheath is called myelination or myelinogenesis. The myelin sheath is a multi-layered membrane, unique to the nervous system, that functions as an insulator to greatly increase the efficiency of axonal impulse conduction.
Multiple sclerosis (MS) is a potentially disabling disease of the brain and spinal cord (central nervous system).
In MS, the immune system attacks the protective sheath (myelin) that covers nerve fibers and causes communication problems between your brain and the rest of your body. Eventually, the disease can cause the nerves themselves to deteriorate or become permanently damaged.
There’s no cure for multiple sclerosis. However, treatments can help speed recovery from attacks, modify the course of the disease and manage symptoms.
Multiple sclerosis signs and symptoms may differ greatly from person to person and over the course of the disease depending on the location of affected nerve fibers. They may include:
See a doctor if you experience any of the above symptoms for unknown reasons.
“Edwards syndrome, also known as trisomy 18, is a very severe genetic condition that affects how your child’s body develops and grows. Children diagnosed with trisomy 18 have a low birth weight, multiple birth defects and defining physical characteristics.
Edwards syndrome (trisomy 18) can affect anyone. The condition occurs when a person has an extra copy of chromosome 18, which is random and unpredictable. The likelihood that a parent will have a child with Edwards syndrome (trisomy 18) increases with maternal age at the time of pregnancy. If a parent had a child with Edwards syndrome (trisomy 18) and becomes pregnant again, it’s unlikely they’ll have another child diagnosed with the same condition (no more than 1%).”
Cleveland Clinic (https://my.clevelandclinic.org/health/diseases/22172-edwards-syndrome)
Trisomy 18, also known as Edwards syndrome, is a condition which is caused by a error in cell division, known as meiotic disjunction. When this happens, instead of the normal pair, an extra chromosome 18 results (a triple) in the developing baby and disrupts the normal pattern of development in significant ways that can be life-threatening, even before birth. A Trisomy 18 error occurs in about 1 out of every 2500 pregnancies in the United States and 1 in 6000 live births. The numbers of total births is much higher because it includes significant numbers of stillbirths that occur in the 2nd and 3rd trimesters of pregnancy.
Unlike Down syndrome, which also is caused by an extra chromosome, the developmental issues caused by Trisomy 18 are associated with more medical complications that are more potentially life-threatening in the early months and years of life. Studies have shown that only 50% of babies who are carried to term will be born alive, and baby girls will have higher rates of live birth than baby boys.
What are Related Conditions?
The most common trisomy is Trisomy 21, also known as Down syndrome, where a baby has three of the twenty-first chromosome. Trisomy 18 is the second most common trisomy and occurs when a baby has three of the eighteenth chromosome. This results in 47 chromosomes instead of the normal 46 in the affected cells. It is this extra genetic material that causes the problems associated with Trisomy 18. The third most common is Trisomy 13, also known as Patau syndrome.
While there are different types of Trisomy 18, this does not mean one is better for a child than another. With each type, there is a range of possibilities. Some children are medically fragile while others thrive; some children walk while others are confined to wheelchairs. It is hard to say how the extra chromosome will impact an individual child from the genetic diagnosis alone.
Types of Trisomy 18:
Most cases of Trisomy 18 are diagnosed prenatally in the United States. Regardless of whether the diagnosis is made prenatally or postnatally (after birth) the process is the same. A sample of the baby’s dna is extracted from a blood sample or other bodily cells or tissue and is cultured to examine a picture of the chromosomes called a karyotype. A karyotype is simply a picture of a person’s chromosomes. In order to get this picture, the chromosomes are isolated, stained, and examined under the microscope. Most often, this is done using the chromosomes in the white blood cells. A picture of the chromosomes is taken through the microscope. A visible extra 18th chromosome confirms a Trisomy 18 diagnosis.
Treatment varies
Treatment will depend on what conditions the child ends up with into adulthood and how it impacts the individual in adulthood.
“The symptoms of Guillain-Barré syndrome (GBS) can be alarming, because they usually come on suddenly and lead to weakness (sometimes paralysis) of the arms and legs. Fortunately, Guillain-Barré syndrome is rare and often clears up after prompt medical treatment, though it may take years for symptoms to go away completely. After hospitalization, physical therapy can contribute to a favorable GBS prognosis.
As GBS progresses, it can cause alarming symptoms, including total paralysis, difficulty chewing and swallowing, and trouble breathing. In virtually every case, however, GBS paralysis and other symptoms resolve within days to weeks. Statistically, around 70% of people who experience Guillain-Barré paralysis will fully recover their muscle strength, function and sensation. As the nerves begin to heal, physical rehabilitation can greatly improve the prognosis.
According to the U.S. Centers for Disease Control and Prevention (CDC), approximately 3,000 to 6,000 people develop the syndrome each year. The risk of developing GBS increases with age, and people older than 50 face the highest risk of developing the condition. You cannot eliminate your risk of developing Guillain-Barré syndrome, since the exact cause remains unknown. However, certain types of food poisoning can trigger it, so you can reduce your risk by thoroughly cooking poultry and other foods, as well as scrubbing fresh fruits and vegetables.”
healthgrades (7 Facts About Guillain-Barré Syndrome)
Medical Management: Patients with Guillain-Barre syndrome will be hospitalized initially (medical emergency). It is important to monitor the individual s respiration carefully. If breathing problems are severe he/she may be placed in an ICU (intensive care unit) and put on a ventilator. According to the National Health Service, the two main initial treatment options for Guillain-Barre syndrome are intravenous immunoglobulin, which is safer and easier to give, or plasmapheres (plasma exchange).
The initial signs and symptoms of GBS are varied and there are several disorders with similar symptoms. Therefore, doctors may find it difficult to diagnose GBS in its earliest stages.
Physicians will note whether the symptoms appear on both sides of the body (the typical finding in Guillain-Barré syndrome) and the speed with which the symptoms appear (in other disorders, muscle weakness may progress over months rather than days or weeks). In GBS, deep tendon reflexes in the legs, such as knee jerks, are usually lost. Reflexes may also be absent in the arms. Because the signals traveling along the nerve are slow, a nerve conduction velocity test (NCV, which measures the nerve’s ability to send a signal) can provide clues to aid the diagnosis. There is a change in the cerebrospinal fluid that bathes the spinal cord and brain in people with GBS. Researchers have found the fluid contains more protein than usual but very few immune cells (measured by white blood cells). Therefore, a physician may decide to perform a spinal tap or lumbar puncture to obtain a sample of spinal fluid to analyze. In this procedure, a needle is inserted into the person’s lower back and a small amount of cerebrospinal fluid is withdrawn from the spinal cord. This procedure is usually safe, with rare complications.
Key diagnostic findings include:
There is no known cure for Guillain-Barré syndrome. However, some therapies can lessen the severity of the illness and shorten recovery time. There are also several ways to treat the complications of the disease.
Because of possible complications of muscle weakness, problems that can affect any paralyzed person (such as pneumonia or bed sores) and the need for sophisticated medical equipment, individuals with Guillain-Barré syndrome are usually admitted and treated in a hospital’s intensive care unit.
Acute care
There are currently two treatments commonly used to interrupt immune-related nerve damage. One is plasma exchange (PE, also called plasmapheresis); the other is high-dose immunoglobulin therapy (IVIg). Both treatments are equally effective if started within two weeks of onset of GBS symptoms, but immunoglobulin is easier to administer. Using both treatments in the same person has no proven benefit.
In the process of plasma exchange, a plastic tube called a catheter is inserted into the person’s veins, through which some blood is removed. The blood cells from the liquid part of the blood (plasma) are extracted and returned to the person. This technique seems to reduce the severity and duration of the Guillain-Barré episode. Plasma contains antibodies and PE removes some plasma; PE may work by removing the bad antibodies that have been damaging the nerves.
Immunoglobulins are proteins that the immune system naturally makes to attack infecting organisms. IVIg therapy involves intravenous injections of these immunoglobulins. The immunoglobulins are developed from a pool of thousands of normal donors. When IVIg is given to people with GBS, the result can be a lessening of the immune attack on the nervous system. The IVIg can also shorten recovery time. Investigators believe this treatment also lowers the levels or effectiveness of antibodies that attack the nerves by both “diluting” them with non-specific antibodies and providing antibodies that bind to the harmful antibodies and take them out of commission.
Miller-Fisher syndrome that is a rare, acquired nerve disease that is considered to be a variant of Guillain-Barré syndrome, is also treated with plasmapheresis and IVIg.
Anti-inflammatory steroid hormones called corticosteroids have also been tried to reduce the severity of Guillain-Barré syndrome. However, controlled clinical trials have demonstrated that this treatment is not effective.
Supportive care is very important to address the many complications of paralysis as the body recovers and damaged nerves begin to heal. Respiratory failure can occur in GBS, so close monitoring of a person’s breathing should be instituted initially. Sometimes a mechanical ventilator is used to help support or control breathing. The autonomic nervous system (that regulates the functions of internal organs and some of the muscles in the body) can also be disturbed, causing changes in heart rate, blood pressure, toileting, or sweating. Therefore, the person should be put on a heart monitor or equipment that measures and tracks body function. Occasionally GBS-related nerve damage can lead to difficulty handling secretions in the mouth and throat. In addition to the person choking and/or drooling, secretions can fall into the airway and cause pneumonia.
Rehabilitative care
As individuals begin to improve, they are usually transferred from the acute care hospital to a rehabilitation setting. Here, they can regain strength, receive physical rehabilitation and other therapy to resume activities of daily living, and prepare to return to their pre-illness life.
Complications in GBS can affect several parts of the body. Often, even before recovery begins, caregivers may use several methods to prevent or treat complications. For example, a therapist may be instructed to manually move and position the person’s limbs to help keep the muscles flexible and prevent muscle shortening. Injections of blood thinners can help prevent dangerous blood clots from forming in leg veins. Inflatable cuffs may also be placed around the legs to provide intermittent compression. All or any of these methods helps prevent blood stagnation and sludging (the buildup of red blood cells in veins, which could lead to reduced blood flow) in the leg veins. Muscle strength may not return uniformly; some muscles that get stronger faster may tend to take over a function that weaker muscles normally perform—called substitution. The therapist should select specific exercises to improve the strength of the weaker muscles so their original function can be regained.
Occupational and vocational therapy help individuals learn new ways to handle everyday functions that may be affected by the disease, as well as work demands and the need for assistive devices and other adaptive equipment and technology.
Guillain-Barré syndrome can be a devastating disorder because of its sudden and rapid, unexpected onset of weakness—and usually actual paralysis. Fortunately, 70% of people with GBS eventually experience full recovery. With careful intensive care and successful treatment of infection, autonomic dysfunction and other medical complications, even those individuals with respiratory failure usually survive.
Typically, the point of greatest weakness occurs days to at most 4 weeks after the first symptoms occur. Symptoms then stabilize at this level for a period of days, weeks, or, sometimes months. Recovery, however, can be slow or incomplete. The recovery period may be as little as a few weeks up to a few years. Some individuals still report ongoing improvement after 2 years. About 30 percent of those with Guillain-Barré have residual weakness after 3 years. About 3 percent may suffer a relapse of muscle weakness and tingling sensations many years after the initial attack. About 15 percent of individuals experience long-term weakness; some may require ongoing use of a walker, wheelchair, or ankle support. Muscle strength may not return uniformly.
Ongoing fatigue, pain, and other annoying sensations can sometimes be troublesome. Fatigue is best handled by pacing activities and providing time for rest when fatigue sets in. Those with Guillain-Barré syndrome face not only physical difficulties, but emotionally painful periods as well. It is often extremely difficult for individuals to adjust to sudden paralysis and dependence on others for help with routine daily activities. Individuals sometimes need psychological counseling to help them adapt. Support groups can often ease emotional strain and provide valuable information.
“GBS can affect anyone of any sex or age, but most often affects adults and people older than 50. GBS is not contagious or inherited and the exact cause is unknown.
Since the body’s own immune system does the damage, GBS is called an autoimmune disease (“auto” meaning “self”). Normally the immune system uses antibodies (molecules produced in an immune response) and special white blood cells to protect us by attacking infecting bacteria and viruses. In GBS, however, the immune system mistakenly attacks the healthy nerves. This attack may start as a fight against an infection. One possible reason for this is that some chemicals seen on bacteria and viruses resemble those on nerve cells. The immune system may not be able to distinguish bacteria and viruses from healthy nerve cells which also become targets of attack.”
(Guillain-Barré Syndrome | National Institute of Neurological Disorders and Stroke)
Various ideas have been proposed to explain how GBS develops. One explanation is known as the “molecular mimicry/innocent bystander” theory. According to this explanation, molecules on some nerves are very similar to or mimic molecules on some microorganisms. When those microbes infect someone, the immune system correctly attacks them. And if the microbe and myelin look similar, the immune system makes a mistake and attacks the myelin.
Different mechanisms may explain how the molecular mimicry concept may work. When Guillain-Barré syndrome is preceded by a viral or bacterial infection, it is possible that the infecting agent has changed the chemical structure of some nerves. The immune system treats these nerves as foreign bodies and mistakenly attacks them. It is also possible that the virus makes the immune system itself less discriminating and no longer able to recognize its own nerves. Some parts of the immune system—special white blood cells called lymphocytes and macrophages—perceive myelin as a foreign body and attack it. Specialized white blood cells called T lymphocytes (from the thymus gland) cooperate with B lymphocytes (that originate in bone marrow) to produce antibodies against the person’s own myelin and damage it.
In some forms of GBS, antibodies made by the person to fight a Campylobacter jejuni bacterial infection attack axons in the motor nerves. This causes acute motor axonal neuropathy, which is a variant of GBS that includes acute paralysis and a loss of reflexes without sensory loss. Campylobacter infections can be caused by ingesting contaminated food or from other exposures. The infected person’s body then makes antibodies against Campylobacter. Some Campylobacter molecules resemble molecules in the person’s nerve axons, so when the person’s antibodies fight the Campylobacter bacteria they also attack the look-alike axons. This slows nerve conduction and causes paralysis. Scientists are investigating various GBS subtypes to find why the immune system reacts abnormally in this syndrome and other autoimmune diseases.
Guillian Barre Syndrome (GBS) is associated with cranial nerve involvement. Commonest cranial nerves involved were the facial and bulbar (IXth and Xth) .Guillian Barre Syndrome (GBS) is associated with cranial nerve involvement. Most common cranial nerves involved are the facial and bulbar (IXth and Xth). Involvement of twelfth cranial nerve is rare in GBS. Your hypoglossal nerve is the 12th cranial nerve which is responsible for the movement of most of the muscles in your tongue. It starts in the medulla oblongata and moves down into the jaw, where it reaches the tongue. .
Guillain-Barré syndrome is one of several disorders involving weakness due to peripheral nerve damage caused by the person’s immune system. While GBS comes on rapidly over days to weeks, and the person usually recovers, other disorders develop slowly and can linger or recur.
The most common type of GBS seen in the United States is acute inflammatory demyelinating polyneuropathy (AIDP). In AIDP, the immune response damages the myelin coating and interferes with the transmission of nerve signals. In two other types of Guillain-Barré syndrome, acute motor axonal neuropathy (AMAN) and acute motor-sensory axonal neuropathy (AMSAN), the axons themselves are damaged by the immune response.
Miller-Fisher syndrome is a rare, acquired nerve disease that is a variant of Guillain-Barré syndrome. It is characterized by abnormal muscle coordination with poor balance and clumsy walking, weakness or paralysis of the eye muscles, and absence of the tendon reflexes. Like GBS, symptoms may follow a viral illness. Additional symptoms include generalized muscle weakness and respiratory failure. Most individuals with Miller Fisher syndrome have a unique antibody that characterizes the disorder.
Related peripheral nerve disorders with slow onset and persisting or recurrent symptoms include chronic inflammatory demyelinating polyneuropathy (CIDP) and multifocal motor neuropathy. CIDP features weakness that can recur, repeatedly, over the course of years. Multifocal motor neuropathy typically affects many different muscles in a small part of a limb or limbs. Usually the symptoms are more severe on one side of the body.
Stay tune for Part III on GBS regarding how its diagnosed and the Rx including rehab.
“Key facts:
-Guillain-Barré syndrome (GBS) is a rare condition in which a person’s immune system attacks the peripheral nerves.
-People of all ages can be affected, but it is more common in adults and in males.
-Most people recover fully from even the most severe cases of Guillain-Barré syndrome.
-Severe cases of Guillain-Barré syndrome are rare but can result in near-total paralysis and problems breathing.
-Guillain-Barré syndrome is potentially life-threatening. People with Guillain-Barré syndrome should be treated and monitored as quickly as possible; some may need intensive care.”
World Health Organization
https://www.who.int/news-room/fact-sheets/detail/guillain-barr%C3%A9-syndrome
Guillain-Barré syndrome (GBS) is a rare neurological disorder in which the body’s immune system mistakenly attacks part of its peripheral nervous system—the network of nerves located outside of the brain and spinal cord. GBS can range from a very mild case with brief weakness to nearly devastating paralysis, leaving the person unable to breathe independently. Fortunately, most people eventually recover from even the most severe cases of GBS. After recovery, some people will continue to have some degree of weakness.
Guillain-Barré syndrome can affect anyone. It can strike at any age (although it is more frequent in adults and older people) and both sexes are equally prone to the disorder. GBS is estimated to affect about one person in 100,000 each year.
The exact cause of GBS is not known. Researchers don’t know why it strikes some people and not others. It is not contagious or inherited.
What they do know is that the affected person’s immune system begins to attack the body itself. It is thought that, at least in some cases, this immune attack is initiated to fight an infection and that some chemicals on infecting bacteria and viruses resemble those on nerve cells, which, in turn, also become targets of attack. Since the body’s own immune system does the damage, GBS is called an autoimmune disease (“auto” meaning “self”). Normally the immune system uses antibodies (molecules produced in an immune response) and special white blood cells to protect us by attacking infecting microorganisms (bacteria and viruses). In Guillain-Barré syndrome, however, the immune system mistakenly attacks the healthy nerves.
Most cases usually start a few days or weeks following a respiratory or gastrointestinal viral infection. Occasionally surgery will trigger the syndrome. In rare cases vaccinations may increase the risk of GBS. Recently, some countries worldwide reported an increased incidence of GBS following infection with the Zika virus.
Unexplained sensations often occur first, such as tingling in the feet or hands, or even pain (especially in children), often starting in the legs or back. Children will also show symptoms with difficulty walking and may refuse to walk. These sensations tend to disappear before the major, longer-term symptoms appear. Weakness on both sides of the body is the major symptom that prompts most people to seek medical attention. The weakness may first appear as difficulty climbing stairs or with walking. Symptoms often affect the arms, breathing muscles, and even the face, reflecting more widespread nerve damage. Occasionally symptoms start in the upper body and move down to the legs and feet.
Most people reach the greatest stage of weakness within the first two weeks after symptoms appear; by the third week 90 percent of affected individuals are at their weakest.
In addition to muscle weakness, symptoms may include:
These symptoms can increase in intensity over a period of hours, days, or weeks until certain muscles cannot be used at all and, when severe, the person is almost totally paralyzed. In these cases, the disorder is life-threatening—potentially interfering with breathing and, at times, with blood pressure or heart rate.
Stay tune for Part II on GBS tomorrow to learn more about this syndrome!