Symptoms

In the United States, the term “ehrlichiosis” may be broadly applied to several different infections. Ehrlichia chaffeensis and Ehrlichia ewingii are transmitted by the lonestar tick in the southeastern and southcentral United States. In addition, a third Ehrlichia species provisionally called Ehrlichia muris-like (EML) has been identified in a small number of patients residing in or traveling to Minnesota and Wisconsin; a tick vector for the EML organism has not yet been established. The symptoms caused by infection with these Ehrlichia species usually develop 1-2 weeks after being bitten by an infected tick.  The tick bite is usually painless, and about half of the people who develop ehrlichiosis may not even remember being bitten by a tick.

 The following is a list of symptoms commonly seen with this disease, however, it is important to note that the combination of symptoms varies greatly from person to person.

 - Fever
 - Headache
 - Chills
 - Malaise
 - Muscle pain
 - Nausea / Vomiting / Diarrhea
 - Confusion
 - Conjunctival injection (red eyes)
 - Rash (in up to 60% of children, less than 30% of adults)

Ehrlichiosis is a serious illness that can be fatal if not treated correctly, even in previously healthy people.  Severe clinical presentations may include difficulty breathing, or bleeding disorders. The estimated case fatality rate (i.e. the proportion of persons who die as a result of their infection) is 1.8%. Patients who are treated early may recover quickly on outpatient medication, while those who experience a more severe course may require intravenous antibiotics, prolonged hospitalization or intensive care.

Rash

Skin rash is not considered a common feature of ehrlichiosis, and should not be used to rule in or rule out an infection. Ehrlichia chaffeensis infection can cause a rash in up to 60% of children, but is reported in fewer than 30% of adults. Rash is not commonly reported in patients infected with Ehrlichia ewingii or the Ehrlichia muris-like organism.  The rash associated with Ehrlichia chaffeensis infection may range from maculopapular to petechial in nature, and is usually not pruritic (itchy). The rash usually spares the face, but in some cases may spread to the palms and soles.  A type of rash called erythroderma may develop in some patients.  Erythroderma is a type of rash that resembles a sunburn and consists of widespread reddening of the skin that may peel after several days.  Some patients may develop a rash that resembles the rash of Rocky Mountain spotted fever making these two diseases difficult to differentiate on the basis of clinical signs alone.

Immune-compromised Individuals

The severity of ehrlichiosis may depend in part on the immune status of the patient. Persons with compromised immunity caused by immunosuppressive therapies (e.g., corticosteroids , cancer chemotherapy, or longterm immunosuppressive therapy following organ transplant), HIV infection, or splenectomy appear to develop more severe disease, and may also have higher case-fatality rates (i.e. the proportion of patients that die from infection.)

Blood Transfusion and Organ Transplant Risks Associated with Ehrlichia species

Because Ehrlichia organisms infect the white blood cells and circulate in the blood stream, these pathogens may pose a risk to be transmitted through blood transfusions. Ehrlichia chaffeensis has been shown to survive for more than a week in refrigerated blood. Several instances of suspected E. chaffeensis transmission through solid organ transplant have been investigated, although to date no cases have been confirmed that can be attributed to this route of transmission. Patients who develop ehrlichiosis within a month of receiving a blood transfusion or solid organ transplant should be reported to state health officials for prompt investigation. Use of leukoreduced blood products may theoretically decrease the risk of transfusion-associated transmission of these pathogens. However, the filtration process does not remove all leukocytes or bacteria not associated with leukocytes from leukoreduced blood; therefore, this process may not eliminate the risk completely.

For more in-depth information about signs and symptoms of ehrlichiosis, please visit http://www.cdc.gov/mmwr/preview/mmwrhtml/rr5504a1.htm

Diagnosis

The diagnosis of ehrlichiosis must be made based on clinical signs and symptoms, and can later be confirmed using specialized confirmatory laboratory tests.  Treatment should never be delayed pending the receipt of laboratory test results, or be withheld on the basis of an initial negative laboratory result.
Physician Diagnosis

There are several aspects of ehrlichiosis that make it challenging for healthcare providers to diagnose and treat.  The symptoms vary from patient to patient and can be difficult to distinguish from other diseases.  Treatment is more likely to be effective if started early in the course of disease. Diagnostic tests based on the detection of antibodies will frequently be negative in the first 7-10 days of illness.

For this reason, healthcare providers must use their judgment to treat patients based on clinical suspicion alone. Healthcare providers may find important information in the patient’s history and physical examination that may aid clinical suspicion. Information such as recent tick bites, exposure to areas where ticks are likely to be found, or history of recent travel to areas where ehrlichiosis is endemic can be helpful in making the diagnosis.  The healthcare provider should also look at routine blood tests, such as a complete blood cell count or a chemistry panel. Clues such as a low platelet count (thrombocytopenia), low white blood cell count (leukopenia), or elevated liver enzyme levels are helpful predictors of ehrlichiosis, but may not be present in all patients depending on the course of the disease.   After a suspect diagnosis is made on clinical suspicion and treatment has begun, specialized laboratory testing should be used to confirm the diagnosis of ehrlichiosis.

Laboratory Detection

During the acute phase of illness, a sample of whole blood can be tested by polymerase chain reaction (PCR) assay to determine if a patient has ehrlichiosis. This method is most sensitive in the first week of illness, and quickly decreases in sensitivity following the administration of appropriate antibiotics. Although a positive PCR result is helpful, a negative result does not completely rule out the diagnosis.

During the first week of illness a microscopic examination of blood smears (known as a peripheral blood smear) may reveal morulae (microcolonies of ehrlichiae) in the cytoplasm of white blood cells in up to 20% of patients.

The type of blood cell in which morulae are observed may provide insight into the infecting species: E. chaffeensis most commonly infects monocytes, whereas E. ewingii more commonly infect granulocytes. However, the observance of morulae in a particular cell type cannot conclusively identify the infecting species. Culture isolation of Ehrlichia is only available at specialized laboratories; routine hospital blood cultures cannot detect Ehrlichia.

When a person develops ehrlichiosis, their immune system produces antibodies to the Ehrlichia, with detectable antibody titers usually observed by 7-10 days after illness onset.  It is important to note that antibodies are not detectable in the first week of illness in 85% of patients, and a negative test during this time does not rule out ehrlichiosis as a cause of illness.

The gold standard serologic test for diagnosis of ehrlichiosis is the indirect immunofluorescence assay (IFA) using E. chaffeensis antigen, performed on paired serum samples to demonstrate a significant (four-fold) rise in antibody titers.  The first sample should be taken as early in the disease as possible, preferably in the first week of symptoms, and the second sample should be taken 2 to 4 weeks later. In most cases of ehrlichiosis, the first IgG IFA titer is typically low, or “negative,” and the second typically shows a significant (four-fold) increase in IgG antibody levels. IgM antibodies usually rise at the same time as IgG near the end of the first week of illness and remain elevated for months or longer.  Also, IgM antibodies are less specific than IgG antibodies and more likely to result in a false positive.  For these reasons, physicians requesting IgM serologic titers should also request a concurrent IgG titer.

Serologic tests based on enzyme immunoassay (EIA) technology are available from some commercial laboratories. However, EIA tests are qualitative rather than quantitative, meaning they only provide a positive/negative result, and are less useful to measure changes in antibody titers between paired specimens. Furthermore, some EIA assays rely on the evaluation of IgM antibody alone, which may have a higher frequency of false positive results.

Antibodies to E. chaffeensis may remain elevated for months or longer after the disease has resolved, or may be detected in persons who were previously exposed to antigenically related organisms.  Up to 12% of currently healthy people in some areas may have elevated antibody titers due to past exposure to Ehrlichia species or similar organisms. Therefore, if only one sample is tested it can be difficult to interpret, while paired samples taken weeks apart demonstrating a significant (four-fold) rise in antibody titer provides the best evidence for a correct diagnosis of ehrlichiosis.

For more in-depth information about the diagnosis of ehrlichiosis, please visit http://www.cdc.gov/mmwr/preview/mmwrhtml/rr5504a1.htm

Treatment

Doxycycline is the first line treatment for adults and children of all ages and should be initiated immediately whenever ehrlichiosis is suspected.

Use of antibiotics other than doxycycline and other tetracyclines is associated with a higher risk of fatal outcome for some rickettsial infections. Doxycycline is most effective at preventing severe complications from developing if it is started early in the course of disease. Therefore, treatment must be based on clinical suspicion alone and should always begin before laboratory results return.

If the patient is treated within the first 5 days of the disease, fever generally subsides within 24-72 hours.  In fact, failure to respond to doxycycline suggests that the patient’s condition might not be due to ehrlichiosis. Severely ill patients may require longer periods before their fever resolves. Resistance to doxcycline or relapses in symptoms after the completion of the recommended course have not been documented.

Recommended Dosage

Doxycycline is the first line treatment for adults and children of all ages:

 - Adults: 100 mg every 12 hours
 - Children under 45 kg (100 lbs): 2.2 mg/kg body weight given twice a day

Patients should be treated for at least 3 days after the fever subsides and until there is evidence of clinical improvement. Standard duration of treatment is 7 to 14 days.  Some patients may continue to experience headache, weakness and malaise for weeks after adequate treatment.

Treating children

The use of doxycycline to treat suspected ehrlichiosis in children is standard practice recommended by both CDC and the AAP Committee on Infectious Diseases. Unlike older generations of tetracyclines, the recommended dose and duration of medication needed to treat ehrlichiosis has not been shown to cause staining of permanent teeth, even when five courses are given before the age of eight.  Healthcare providers should use doxycycline as the first-line treatment for suspected ehrlichiosis in patients of all ages.

Other Treatments

In cases of life threatening allergies to doxycycline and in some pregnant patients for whom the clinical course of ehrlichiosis appears mild, physicians may need to consider alternate antibiotics. Although recommended as a second-line therapeutic alternative to treat Rocky Mountain spotted fever (RMSF), chloramphenicol is not recommended for the treatment of either ehrlichiosis or anaplasmosis, as studies have shown a lack of efficacy. Rifampin appears effective against Ehrlichia in laboratory settings. However, rifampin is not effective in treating RMSF, a disease that may be confused with ehrlichiosis. Healthcare providers should be cautious when exploring treatments other than doxycycline, which is highly effective in treating both. Other antibiotics, including broad spectrum antibiotics are not considered highly effective against ehrlichiosis, and the use of sulfa drugs during acute illness may worsen the severity of infection.

Prophylaxis (Preventive Treatment)

Antibiotic treatment following a tick bite is not recommended as a means to prevent ehrlichiosis. There is no evidence this practice is effective, and this may simply delay onset of disease. Instead, persons who experience a tick bite should be alert for symptoms suggestive of tickborne illness and consult a physician if fever, rash, or other symptoms of concern develop.

For more in-depth information about treatment, please visit http://www.cdc.gov/mmwr/preview/mmwrhtml/rr5504a1.htm

Other Considerations

The clinical presentation for ehrlichiosis can resemble other tickborne diseases, such as Rocky Mountain spotted fever and anaplasmosis. Similar to ehrlichiosis, these infections respond well to treatment with doxycycline. Healthcare providers should order diagnostic tests for additional agents if the clinical history and geographic association warrant. For more in-depth about other similar tickborne diseases, please visit http://www.cdc.gov/mmwr/preview/mmwrhtml/rr5504a1.htm


More detailed information on the diagnosis, management, and treatment of ehrlichiosis is available in Diagnosis and Management of Tickborne Rickettsial Diseases: Rocky Mountain Spotted Fever, Ehrlichioses, and Anaplasmosis – United States.

*Case definitions have been updated since publication
How to Contact the Rickettsial Zoonoses Branch at CDC

The general public and healthcare providers should first call 1-800-CDC-INFO (1-800-232-4636) for questions regarding ehrlichiosis. If a consultation with a CDC scientist specializing in ehrlichiosis is advised, your call will be appropriately forwarded.

Case Definitions

As of January 1, 2008, E. chaffeensis and E. ewingii infections are reported under distinct reporting categories.

2008 Case Definition

Case Report Forms

For confirmed and probable cases of ehrlichiosis that have been identified and reported through the National Notifiable Disease Surveillance System, states are also encouraged to submit additional information using the CDC Case Report Form (CRF). This form collects additional important information that routine electronic reporting does not, such as information on how the diagnosis was made, and whether the patient was hospitalized or died. If a different state-specific form is already used to collect this information, this information may be submitted to CDC in lieu of a CRF.

2010 CDC Case Report Form: Tickborne Rickettsial Diseases (2010 version)  (PDF – 982kb; 3 pages)

How to Submit Specimens to CDC for Ehrlichiosis Testing

Private citizens may not directly submit specimens to CDC for testing. If you feel that diagnostic testing is necessary, consult your healthcare provider or state health department.
State Health Departments:

Specimens may be submitted to CDC for testing for ehrlichiosis. To coordinate specimen submission, please call 404-639-1075 during business hours (8:00 - 4:30 ET).

U.S. Healthcare Providers:

U.S. healthcare providers should not submit specimens for testing directly to CDC. CDC policy requires that specimens for testing be submitted through or with the approval of the state health department. Please contact your state health department, who will assist you with specimen submission and reporting of infection. For general questions about ehrlichiosis, please call 1-800-CDC-INFO (1-800-232-4636). If you have questions about a suspect ehrlichiosis case, please first consult your state health department. Healthcare providers requiring an epidemiologic or laboratory consultation on ehrlichiosis may also call 404-639-1075 during business hours (8:00 - 4:30 ET). Or 770-488-7100 after hours.
Non U.S. Healthcare Providers:

Non-U.S. healthcare providers should consult CDC prior to submitting specimens for testing. For general questions about ehrlichiosis, please call 1-800-CDC-INFO (1-800-232-4636). If you would like to discuss a suspect ehrlichiosis case with CDC, please call 404-639-1075 during business hours (8:00 - 4:30 ET), or 770-488-7100 after hours.


Acinetobacter [asz−in−ée−toe–back−ter] is a group of bacteria commonly found in soil and water. While there are many types or “species” of Acinetobacter and all can cause human disease, Acinetobacter baumannii [asz−in−ée−toe–back−ter   boe-maa-nee-ie] accounts for about 80% of reported infections.

Outbreaks of Acinetobacter infections typically occur in intensive care units and healthcare settings housing very ill patients. Acinetobacter infections rarely occur outside of healthcare settings.


Acinetobacter causes a variety of diseases, ranging from pneumonia to serious blood or wound infections, and the symptoms vary depending on the disease. Acinetobacter may also “colonize” or live in a patient without causing infection or symptoms, especially in tracheostomy sites or open wounds.


Acinetobacter poses very little risk to healthy people. However, people who have weakened immune systems, chronic lung disease, or diabetes may be more susceptible to infections with Acinetobacter. Hospitalized patients, especially very ill patients on a ventilator, those with a prolonged hospital stay, those who have open wounds, or any person with invasive devices like urinary catheters are also at greater risk for Acinetobacter infection. Acinetobacter can be spread to susceptible persons by person-to-person contact or contact with contaminated surfaces.


Acinetobacter can live on the skin and may survive in the environment for several days. Careful attention to infection control procedures, such as hand hygiene and environmental cleaning, can reduce the risk of transmission.


Acinetobacter is often resistant to many commonly prescribed antibiotics. Decisions on treatment of infections with Acinetobacter should be made on a case-by-case basis by a healthcare provider. Acinetobacter infection typically occurs in ill patients and can either cause or contribute to death in these patients.


Tuberculosis (TB) is a disease that is spread through the air from one person to another. There are two kinds of tests that are used to determine if a person has been infected with TB bacteria: the tuberculin skin test and TB blood tests.

A positive TB skin test or TB blood test only tells that a person has been infected with TB bacteria. It does not tell whether the person has latent TB infection (LTBI) or has progressed to TB disease. Other tests, such as a chest x-ray and a sample of sputum, are needed to see whether the person has TB disease.

Tuberculin skin test: The TB skin test (also called the Mantoux tuberculin skin test) is performed by injecting a small amount of fluid (called tuberculin) into the skin in the lower part of the arm. A person given the tuberculin skin test must return within 48 to 72 hours to have a trained health care worker look for a reaction on the arm. The health care worker will look for a raised, hard area or swelling, and if present, measure its size using a ruler. Redness by itself is not considered part of the reaction.

The skin test result depends on the size of the raised, hard area or swelling. It also depends on the person’s risk of being infected with TB bacteria and the progression to TB disease if infected.

   - Positive skin test: This
     means the person’s body was infected with TB bacteria. Additional tests are needed to determine if the person has latent TB infection or TB disease. A health care worker will then provide treatment as needed.
   - Negative skin test: This means the person’s body did not react to the test, and that latent TB infection or TB disease is not likely.

     TB blood tests:
    TB blood tests (also called interferon-gamma release assays or IGRAs) measure how the immune system reacts to the bacteria that cause TB. An IGRA measures how strong a person’s immune system reacts to TB bacteria by testing the person’s blood in a laboratory.

Two IGRAs are approved by the U.S. Food and Drug Administration (FDA) and are available in the United States:

   - QuantiFERON®–TB Gold In-Tube test (QFT-GIT)
   - T-SPOT®.TB test (T-Spot)

   - Positive IGRA: This means that the person has been infected with TB bacteria. Additional tests are needed to determine if the person has latent TB infection or TB disease. A health care worker will then provide treatment as needed.
   - Negative IGRA: This means that the person’s blood did not react to the test and that latent TB infection or TB disease is not likely.

IGRAs are the preferred method of TB infection testing for the following:

   - People who have a difficult time returning for a second appointment to look for a reaction to the TST.

There is no problem with repeated IGRAs.

     Testing for TB in BCG-Vaccinated Persons

Many people born outside of the United States have been BCG-vaccinated.

People who have had a previous BCG vaccine may receive a TB skin test. In some people, BCG may cause a positive skin test when they are not infected with TB bacteria. If a TB skin test is positive, additional tests are needed.

IGRAs, unlike the TB skin tests, are not affected by prior BCG vaccination and are not expected to give a false-positive result in people who have received BCG.

     Choosing a TB Test

The person’s health care provider should choose which TB test to use. Factors in selecting which test to use include the reason for testing, test availability, and cost. Generally, it is not recommended to test a person with both a TST and an IGRA.

     Diagnosis of Latent TB Infection or TB Disease

If a person is found to be infected with TB bacteria, other tests are needed to see if the person has TB disease.

TB disease can be diagnosed by medical history, physical examination, chest x-ray, and other laboratory tests. TB disease is treated by taking several drugs as recommended by a health care provider.

If a person does not have TB disease, but has TB bacteria in the body, then latent TB infection is diagnosed. The decision about treatment for latent TB infection will be based on a person’s chances of developing TB disease.

     Diagnosis of TB Disease

People suspected of having TB disease should be referred for a medical evaluation, which will include

   - Medical history,
   - Physical examination,
   - Test for TB infection (TB skin test or TB blood test),
   - Chest radiograph (X-ray), and
   - Appropriate laboratory tests

See Diagnosis of TB (Fact sheet) for more information about TB diagnosis.

      Related Links

   For Patients

   For Health Care Providers


Infection Control in Health Care Settings

Tuberculosis (TB) transmission has been documented in health care settings where health care workers and patients come in contact with people who have TB disease.

People who work or receive care in health care settings are at higher risk for becoming infected with TB; therefore, it is necessary to have a TB infection control plan as part of a general infection control program designed to ensure the following:

   - prompt detection of infectious patients,
   - airborne precautions, and
   - treatment of people who have suspected or confirmed TB disease.

In order to be effective, the primary emphasis of a TB infection control program should be on achieving these three goals.

In all health care settings, particularly those in which people are at high risk for exposure to TB, policies and procedures for TB control should be developed, reviewed periodically, and evaluated for effectiveness to determine the actions necessary to minimize the risk for transmission of TB.

The TB infection control program should be based on a three-level hierarchy of control measures and include:

   - Administrative measures
   - Environmental controls
   - Use of respiratory protective equipment

The first and most important level of the hierarchy, administrative measures, impacts the largest number of people. It is intended primarily to reduce the risk of uninfected people who are exposed to people who have TB disease.

The second level of the hierarchy is the use of environmental controls to reduce the amount of TB in the air. The first two control levels of the hierarchy also minimize the number of areas in the health care setting where exposure to TB may occur.

The third level of the hierarchy is the use of respiratory protective equipment in situations that pose a high risk of exposure to TB. Use of respiratory protection equipment can further reduce the risk for exposure of health care workers.

More: Information about Infection Control in Health Care Settings

     TB Prevention

Preventing Exposure to TB Disease While Traveling Abroad
Travelers should avoid close contact or prolonged time with known TB patients in crowded, enclosed environments (for example, clinics, hospitals, prisons, or homeless shelters).

Travelers who will be working in clinics, hospitals, or other health care settings where TB patients are likely to be encountered should consult infection control or occupational health experts. They should ask about administrative and environmental procedures for preventing exposure to TB. Once those procedures are implemented, additional measures could include using personal respiratory protective devices.

Travelers who anticipate possible prolonged exposure to people with TB (for example, those who expect to come in contact routinely with clinic, hospital, prison, or homeless shelter populations) should have a tuberculin skin test (TST) or interferon-gamma release assay (IGRA) test before leaving the United States. If the test reaction is negative, they should have a repeat test 8 to 10 weeks after returning to the United States. Additionally, annual testing may be recommended for those who anticipate repeated or prolonged exposure or an extended stay over a period of years. Because people with HIV infection are more likely to have an impaired response to both the TST and IGRA, travelers who are HIV positive should tell their physicians about their HIV infection status.

More: Tuberculosis Information for International Travelers

     What to Do If You Have Been Exposed to TB

If you think you have been exposed to someone with TB disease, contact your health care provider or local health department to see if you should be tested for TB. Be sure to tell the doctor or nurse when you spent time with someone who has TB disease.

More: What to Do If You Have Been Exposed to TB

     Preventing Latent TB Infection from Progressing to TB Disease

Many people who have latent TB infection never develop TB disease. But some people who have latent TB infection are more likely to develop TB disease than others. Those at high risk for developing TB disease include:

   - People with HIV infection
   - People who became infected with TB bacteria in the last 2 years
   - Babies and young children
   - People who inject illegal drugs
   - People who are sick with other diseases that weaken the immune system
   - Elderly people
   - People who were not treated correctly for TB in the past

If you have latent TB infection and you are in one of these high-risk groups, you should take medicine to keep from developing TB disease. There are several treatment options for latent TB infection. You and your health care provider must decide which treatment is best for you. If you take your medicine as instructed, it can keep you from developing TB disease. Because there are less bacteria, treatment for latent TB infection is much easier than treatment for TB disease. A person with TB disease has a large amount of TB bacteria in the body. Several drugs are needed to treat TB disease.


Tuberculosis (TB) is caused by a bacterium called Mycobacterium tuberculosis. The bacteria usually attack the lungs, but TB bacteria can attack any part of the body such as the kidney, spine, and brain. If not treated properly, TB disease can be fatal.

Not everyone infected with TB bacteria becomes sick. As a result, two TB-related conditions exist: latent TB infection and TB disease. Both latent TB infection and TB disease can be treated. Learn more about the difference between latent TB infection and TB disease.

     Treatment for Latent TB Infection

People with latent TB infection have TB bacteria in their bodies, but they are not sick because the bacteria are not active. People with latent TB infection do not have symptoms, and they cannot spread TB bacteria to others. However, if TB bacteria become active in the body and multiply, the person will go from having latent TB infection to being sick with TB disease. For this reason, people with latent TB infection are often prescribed treatment to prevent them from developing TB disease. Treatment of latent TB infection is essential for controlling and eliminating TB in the United States.

Because there are less bacteria in a person with latent TB infection, treatment is much easier. Four regimens are approved for the treatment of latent TB infection. The medications used to treat latent TB infection include:

   - isoniazid (INH)
   - rifampin (RIF)
   - rifapentine (RPT)

Certain groups of people (such as people with weakened immune systems) are at very high risk of developing TB disease once infected with TB bacteria. Every effort should be made to begin appropriate treatment and to ensure completion of the entire course of treatment for latent TB infection.

More: Treatment for Latent TB Infection

     Treatment for TB Disease

TB bacteria become active (multiplying in the body) if the immune system can't stop them from growing. When TB bacteria are active, this is called TB disease. TB disease will make a person sick. People with TB disease may spread the bacteria to people with whom they spend many hours.

TB disease can be treated by taking several drugs for 6 to 9 months. There are 10 drugs currently approved by the U.S. Food and Drug Administration (FDA) for treating TB. Of the approved drugs, the first-line anti-TB agents that form the core of treatment regimens include:

   - isoniazid (INH)
   - rifampin (RIF)
   - ethambutol (EMB)
   - pyrazinamide (PZA)

Regimens for treating TB disease have an initial phase of 2 months, followed by a choice of several options for the continuation phase of either 4 or 7 months (total of 6 to 9 months for treatment). Learn more about the continuation phase of treatment.

It is very important that people who have TB disease finish the medicine, taking the drugs exactly as prescribed. If they stop taking the drugs too soon, they can become sick again; if they do not take the drugs correctly, the TB bacteria that are still alive may become resistant to those drugs. TB that is resistant to drugs is harder and more expensive to treat.

More: Treatment for TB Disease

     Treatment Completion

Treatment completion is determined by the number of doses ingested over a given period of time. Although basic TB regimens are broadly applicable, there are modifications that should be made under special circumstances (such as people with HIV infection, drug resistance, pregnancy, or treatment of children).


The Division of Tuberculosis Elimination (DTBE) Laboratory Branch (LB) provides services for the following tests on mycobacterial cultures. Any local health department, licensed physician's office, licensed laboratory or licensed health care facility may submit cultures for testing but they must be routed through either their state health department or other authorized facility.
  Genotyping
  State or local TB control programs

A genotyping laboratory, in Michigan  is under contract with CDC to provide genotyping services to TB programs in the United States. Three genotyping methods to identify TB strains:

   - Spoligotyping
   - Mycobacterial interspersed repetitive unit (MIRU) analysis
   - IS6110-based restriction fragment length polymorphism (RFLP) analysis

For more information, view the Guide to the Application of Genotyping to Tuberculosis Prevention and Control.

DTBE epidemiologic investigations and surveillance activities

   - The LB provides support for DTBE epidemiologic investigations and surveillance activities. TB genotyping results, when combined with epidemiologic data, help to distinguish TB patients who are involved in the same chain of recent transmission.

  Drug susceptibility testing

The LB performs drug susceptibility testing for selected Mycobacterium species referred from state or other authorized health facilities. Cultures of mycobacteria are tested by the indirect proportion method with antituberculosis drugs incorporated into 7H10 agar plates.

  Additional Resources


TB Epidemiologic Studies Consortium

 The TB Epidemiologic Studies Consortium (TBESC) was established to strengthen, focus, and coordinate tuberculosis (TB) research. The TBESC is designed to build the scientific research capacities of state and metropolitan TB control programs, participating laboratories, academic institutions, hospitals, and both non- and for-profit organizations.

  TB Trials Consortium

 The TB Trials Consortium (TBTC) is a collaboration of North American and international clinical investigators whose mission is to conduct programmatically relevant research concerning the diagnosis, clinical management, and prevention of TB infection and disease.
  Behavioral and Social Science Research
  Behavioral and social science research has the potential to make a tremendous impact on TB elimination efforts. This research is needed to 1) understand how behaviors of both patients and providers affect TB-related care seeking, diagnosis, treatment success, and prevention; and 2) understand how other social, cultural, and environmental influences affect health seeking and treatment outcomes related to TB.


Also called crab lice or "crabs," pubic lice are parasitic insects found primarily in the pubic or genital area of humans. Pubic lice infestation is found worldwide and occurs in all races, ethnic groups, and levels of society.


Pubic ("crab") lice infestation is found worldwide and occurs in all races and ethnic groups and in all levels of society. Pubic lice usually are spread through sexual contact and are most common in adults. Occasionally pubic lice may be spread by close personal contact or contact with articles such as clothing, bed linens, and towels that have been used by an infested person. Pubic lice found on the head or eyelashes of children may be an indication of sexual exposure or abuse.

Pubic lice do not transmit disease; however, secondary bacterial infection can occur from scratching of the skin.


Pubic lice are short and crab-like and appear very different from head and body lice. Pubic lice infestation is diagnosed by finding a “crab” louse or eggs on hair in the pubic region or, less commonly, elsewhere on the body (eyebrows, eyelashes, beard, mustache, armpit, perianal area, groin, trunk, scalp). Although pubic lice and nits can be large enough to be seen with the naked eye, a magnifying lens may be necessary to find lice or eggs.


A lice-killing lotion containing 1% permethrin or a mousse containing pyrethrins and piperonyl butoxide can be used to treat pubic ("crab") lice. These products are available over-the-counter without a prescription at a local drug store or pharmacy. These medications are safe and effective when used exactly according to the instructions in the package or on the label.

Lindane shampoo is a prescription medication that can kill lice and lice eggs. However, lindane is not recommended as a first-line therapy. Lindane can be toxic to the brain and other parts of the nervous system; its use should be restricted to patients who have failed treatment with or cannot tolerate other medications that pose less risk. Lindane should not be used to treat premature infants, persons with a seizure disorder, women who are pregnant or breast-feeding, persons who have very irritated skin or sores where the lindane will be applied, infants, children, the elderly, and persons who weigh less than 110 pounds.

Malathion* lotion 0.5% (Ovide*) is a prescription medication that can kill lice and some lice eggs; however, malathion lotion (Ovide*) currently has not been approved by the U.S. Food and Drug Administration (FDA) for treatment of pubic ("crab") lice.

Both topical and oral ivermectin have been used successfully to treat lice; however, only topical ivermectin lotion currently is approved by the U.S. Food and Drug Administration (FDA) for treatment of lice. Oral ivermectin is not FDA-approved for treatment of lice.

How to treat pubic lice infestations: (Warning: See special instructions for treatment of lice and nits on eyebrows or eyelashes. The lice medications described in this section should not be used near the eyes.)

    - Wash the infested area; towel dry.
    - Carefully follow the instructions in the package or on the label. Thoroughly saturate the pubic hair and other infested areas with lice medication. Leave medication on hair for the time recommended in the instructions. After waiting the recommended time, remove the medication by following carefully the instructions on the label or in the box.
    - Following treatment, most nits will still be attached to hair shafts. Nits may be removed with fingernails or by using a fine-toothed comb.
    - Put on clean underwear and clothing after treatment.
    - To kill any lice or nits remaining on clothing, towels, or bedding, machine-wash and machine-dry those items that the infested person used during the 2–3 days before treatment. Use hot water (at least 130°F) and the hot dryer cycle.
    - Items that cannot be laundered can be dry-cleaned or stored in a sealed plastic bag for 2 weeks.
    - All sex partners from within the previous month should be informed that they are at risk for infestation and should be treated.
    - Persons should avoid sexual contact with their sex partner(s) until both they and their partners have been successfully treated and reevaluated to rule out persistent infestation.
    - Repeat treatment in 9–10 days if live lice are still found.
    - Persons with pubic lice should be evaluated for other sexually transmitted diseases (STDs).

Special instructions for treatment of lice and nits found on eyebrows or eyelashes:

    - If only a few live lice and nits are present, it may be possible to remove these with fingernails or a nit comb.
    - If additional treatment is needed for lice or nits on the eyelashes, careful application of ophthalmic-grade petrolatum ointment (only available by prescription) to the eyelid margins 2–4 times a day for 10 days is effective. Regular petrolatum (e.g., Vaseline)* should not be used because it can irritate the eyes if applied.

*Use of trade names is for identification purposes only and does not imply endorsement by the Public Health Service or by the U.S. Department of Health and Human Services.

This information is not meant to be used for self-diagnosis or as a substitute for consultation with a health care provider. If you have any questions about the parasites described above or think that you may have a parasitic infection, consult a health care provider.


Pubic ("crab") lice most commonly are spread directly from person to person by sexual contact. Pubic lice very rarely may be spread by clothing, bedding, or a toilet seat.

The following are steps that can be taken to help prevent and control the spread of pubic ("crab") lice:

     - All sexual contacts of the infested person should be examined. All those who are infested should be treated.
     - Sexual contact between the infested person(s)s and their sexual partner(s) should be avoided until all have been examined, treated as necessary, and reevaluated to rule out persistent infestation.
     - Machine wash and dry clothing worn and bedding used by the infested person in the hot water (at least 130°F) laundry cycle and the high heat drying cycle. Clothing and items that are not washable can be dry-cleaned OR sealed in a plastic bag and stored for 2 weeks.
     - Do not share clothing, bedding, and towels used by an infested person.
     - Do not use fumigant sprays or fogs; they are not necessary to control pubic ("crab") lice and can be toxic if inhaled or absorbed through the skin.

Persons with pubic lice should be examined and treated for any other sexually transmitted diseases (STDs) that may be present.


Frequently Asked Queestions (FAQs)


Several species of Paragonimus cause most infections; the most important is P. westermani, which occurs primarily in Asia including China, the Philippines, Japan, Vietnam, South Korea, Taiwan, and Thailand. P. africanus causes infection in Africa, and P. mexicanus in Central and South America. Specialty dishes in which shellfish are consumed raw or prepared only in vinegar, brine, or wine without cooking play a key role in the transmission of paragonimiasis. Raw crabs or crayfish are also used in traditional medicine practices in Korea, Japan, and some parts of Africa.

Although rare, human paragonimiasis from P. kellicotti has been acquired in the United States, with multiple cases from the Midwest. Several cases have been associated with ingestion of uncooked crawfish during river raft float trips in Missouri.


The infection is usually diagnosed by identification of Paragonimus eggs in sputum. The eggs are sometimes found in stool samples (coughed-up eggs are swallowed). A tissue biopsy is sometimes performed to look for eggs in a tissue specimen.

Specific and sensitive antibody tests based on P. westermani antigens are available through CDC, and serologic tests using a variety of techniques are available through commercial laboratories.

More on: Resources for Health Professionals: Diagnosis

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Paragonimus infections are treatable by your health care provider. Prescription medications are available.

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Never eat raw freshwater crabs or crayfish. Cook crabs and crayfish for to at least 145°F (~63°C). Travelers should be advised to avoid traditional meals containing undercooked freshwater crustaceans.

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On this Page General Information What is vancomycin-resistant enterococci? What types of infections does vancomycin-resistant enterococci cause? Are certain people at risk of getting vancomycin-resistant enterococci? What is the treatment for vancomycin-resistant enterococci? How is vancomycin-resistant enterococci spread? How can patients prevent the spread of vancomycin-resistant enterococci? What should a patient do if they think they have vancomycin-resistant enterococci? Recommendations and Guidelines General Information For more images of this bacterium, search the Public Health Image Library What is vancomycin-resistant enterococci? Enteroccocci are bacteria that are normally present in the human intestines and in the female genital tract and are often found in the environment. These bacteria can sometimes cause infections. Vancomycin is an antibiotic that is used to treat some drug-resistant infections caused by enterococci. In some instances, enterococci have become resistant to this drug and thus are called vancomycin-resistant enterococci (VRE). Most VRE infections occur in hospitals. Top of page What types of infections does VRE cause? VRE can live in the human intestines and female genital tract without causing disease (often called colonization). However, sometimes it can cause infections of the urinary tract, the bloodstream, or of wounds associated with catheters or surgical procedures. Top of page Are certain people at risk of getting VRE? The following persons are at increased risk becoming infected with VRE: People who have been previously treated with the antibiotic vancomycin or other antibiotics for long periods of time. People who are hospitalized, particularly when they receive antibiotic treatment for long periods of time. People with weakened immune systems such as patients in intensive care units, or in cancer or transplant wards. People who have undergone surgical procedures such as abdominal or chest surgery. People with medical devices that stay in for some time such as urinary catheters or central intravenous (IV) catheters. People who are colonized with VRE. Top of page What is the treatment for VRE? People with colonized VRE (bacteria are present, but have no symptoms of an infection)  do not need treatment. Most VRE infections can be treated with antibiotics other than vancomycin. Laboratory testing of the VRE can determine which antibiotics will work. For people who get VRE infections in their bladder and have urinary catheters, removal of the catheter when it is no longer needed can also help get rid of the infection. Top of page How is VRE spread? VRE is often passed from person to person by the contaminated hands of caregivers. VRE can get onto a caregiver's hands after they have contact with other people with VRE or after contact with contaminated surfaces. VRE can also be spread directly to people after they touch surfaces that are contaminated with VRE. VRE is not spread through the air by coughing or sneezing. Top of page How can patients prevent the spread of VRE? If a patient or someone in their household has VRE, the following are some things they can do to prevent the spread of VRE: Keep their hands clean. Always wash their hands thoroughly after using the bathroom and before preparing food. Clean their hands after contact with persons who have VRE. Wash with soap and water (particularly when visibly soiled) or use alcohol-based hand rubs. Frequently clean areas of the home, such as bathrooms, that may become contaminated with VRE. Wear gloves if hands may come in contact with body fluids that may contain VRE, such as stool or bandages from infected wounds. Always wash their hands after removing gloves. If someone has VRE, be sure to tell healthcare providers so that they are aware of the infection. Healthcare facilities use special precautions to help prevent the spread of VRE to others. Top of page What should patients do if they think they have vancomycin-resistant enterococci (VRE)? Anyone who thinks they have VRE must talk with their healthcare provider. Top of page Recommendations and Guidelines For more information about prevention and treatment of HAIs, see the resources below: Siegel JD, Rhinehart E, Jackson M, et al. The Healthcare Infection Control Practices Advisory Committee (HICPAC). Management of Multidrug-Resistant Organisms In Healthcare Settings, 2006


Transmission to humans may occur after a tick bite or contact with an infected animal, most importantly a sick or recently dead monkey. No person-to-person transmission has been described.

Large animals such as goats, cows, and sheep may become infected with KFD but play a limited role in the transmission of the disease. These animals provide the blood meals for ticks and it is possible for infected animals with viremia to infect other ticks, but transmission of KFDV to humans from these larger animals is extremely rare. Furthermore, there is no evidence of disease transmission via the unpasteurized milk of any of these animals.


After an incubation period of 3-8 days, the symptoms of KFD begin suddenly with chills, fever, and headache. Severe muscle pain with vomiting, gastrointestinal symptoms and bleeding problems may occur 3-4 days after initial symptom onset. Patients may experience abnormally low blood pressure, and low platelet, red blood cell, and white blood cell counts.

After 1-2 weeks of symptoms, some patients recover without complication. However, the illness is biphasic for a subset of patients (10-20%) who experience a second wave of symptoms at the beginning of the third week. These symptoms include fever and signs of neurological manifestations, such as severe headache, mental disturbances, tremors, and vision deficits.

The estimated case-fatality rate is from 3 to 5% for KFD.


KFD has historically been limited to the western and central districts of Karnataka State, India. However, in November 2012, samples from humans and monkeys tested positive for KFDV in the southernmost district of the State which neighbors Tamil Nadu State and Kerala State, indicating the possibility of wider distribution of KFDV. Additionally, a virus very similar to KFD virus (Alkhurma hemorrhagic fever virus) has been described in Saudi Arabia.

People with recreational or occupational exposure to rural or outdoor settings (e.g., hunters, herders, forest workers, farmers) within Karnataka State are potentially at risk for infection by contact with infected ticks. Seasonality is another important risk factor as more cases are reported during the dry season, from November through June.


Diagnosis can be made in the early stage of illness by molecular detection by PCR or virus isolation from blood. Later, serologic testing using enzyme-linked immunosorbent serologic assay (ELISA) can be performed.


There is no specific treatment for KFD, but early hospitalization and supportive therapy is important. Supportive therapy includes the maintenance of hydration and the usual precautions for patients with bleeding disorders.


A vaccine does exist for KFD and is used in endemic areas of India. Additional preventative measures include insect repellents and wearing protective clothing in areas where ticks are endemic.


Cyclospora cayetanensis is a parasite composed of one cell, too small to be seen without a microscope. This parasite causes an intestinal infection called cyclosporiasis.


People become infected with Cyclospora by ingesting sporulated oocysts, which are the infective form of the parasite. This most commonly occurs when food or water contaminated with feces is consumed. An infected person sheds unsporulated (immature, non-infective) Cyclospora oocysts in the feces. The oocysts are thought to require days to weeks in favorable environmental conditions to sporulate (become infective). Therefore, direct person-to-person transmission is unlikely, as is transmission via ingestion of newly contaminated food or water.

More on: Cyclospora Biology
    Geographic Distribution

Cyclosporiasis occurs in many countries, but it seems to be most common in tropical and subtropical regions. In areas where cyclosporiasis has been studied, the risk for infection is seasonal. However, no consistent pattern has been identified regarding the time of year or the environmental conditions, such as temperature or rainfall.

In the United States, foodborne outbreaks of cyclosporiasis since the mid-1990s have been linked to various types of imported fresh produce, including raspberries, basil, snow peas, and mesclun lettuce; no commercially frozen or canned produce has been implicated.

U.S. cases of infection also have occurred in persons who traveled to Cyclospora-endemic areas. To reduce the risk for infection, travelers should take precautions, such as those recommended in CDC's Health Information for International Travel (Yellow Book). Travelers also should be aware that treatment of water or food with chlorine or iodine is unlikely to kill Cyclospora oocysts.


Clinical Diagnosis

Health care providers should consider Cyclospora as a potential cause of prolonged diarrheal illness, particularly in patients with a history of recent travel to Cyclospora-endemic areas. Testing for Cyclospora is not routinely done in most U.S. laboratories, even when stool is tested for parasites. Therefore, if indicated, health care providers should specifically request testing for Cyclospora.

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    Laboratory Diagnosis

Cyclospora infection is diagnosed by examining stool specimens. Diagnosis can be difficult in part because even persons who are symptomatic might not shed enough oocysts in their stool to be readily detectable by laboratory examinations. Therefore, patients might need to submit several specimens collected on different days.

Special techniques, such as acid-fast staining, are often used to make Cyclospora oocysts more visible under the microscope. In addition, Cyclospora oocysts are autofluorescent, meaning that when stool containing the parasite is viewed under an ultraviolet (UV) fluorescence microscope the parasite appears blue or green against a black background. Molecular diagnostic methods, such as polymerase chain reaction (PCR) analysis, are used to look for the parasite's DNA in the stool.

More on: Key points for the laboratory diagnosis of cyclosporiasis


Trimethoprim/sulfamethoxazole (TMP/SMX), sold under the trade names Bactrim*, Septra*, and Cotrim*, is the usual therapy for Cyclospora infection. No highly effective alternative antibiotic regimen has been identified yet for patients who do not respond to the standard treatment or have a sulfa allergy.

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Most people who have healthy immune systems will recover without treatment. If not treated, the illness may last for a few days to a month or longer. Symptoms may seem to go away and then return one or more times (relapse). Anti-diarrheal medicine may help reduce diarrhea, but a health care provider should be consulted before such medicine is taken. People who are in poor health or who have weakened immune systems may be at higher risk for severe or prolonged illness.

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* Use of trade names is for identification only and does not imply endorsement by the Public Health Service or by the U.S. Department of Health and Human Services.


On the basis of the currently available information, avoiding food or water that may have been contaminated with feces is the best way to prevent cyclosporiasis. Treatment with chlorine or iodine is unlikely to kill Cyclospora oocysts. No vaccine for cyclosporiasis is available.

The U.S. Food and Drug Administration's (FDA) Center for Food Safety and Applied Nutrition (CFSAN) publishes detailed food safety recommendations for growers and suppliers. In its Guide to Minimize Microbial Food Safety Hazards for Fresh Fruits and Vegetables, CFSAN describes good agricultural practices (GAPs) and good manufacturing practices (GMPs) for fresh fruits and vegetables. The guidelines address the growing, harvesting, sorting, packaging, and storage processes; following the guidelines can help reduce the overall risk for microbial contamination during these processes. The precise ways that food and water become contaminated with Cyclospora oocysts are not fully understood.

CDC monitors the occurrence of cyclosporiasis in the United States and helps state health departments identify and investigate cyclosporiasis outbreaks to prevent additional cases of illness.

More on: Surveillance and Outbreak Response


Trichinellosis, also called trichinosis, is caused by eating raw or undercooked meat of animals infected with the larvae of a species of worm called Trichinella. Infection occurs commonly in certain wild carnivorous (meat-eating) animals such as bear or cougar, or omnivorous (meat and plant-eating) animals such as domestic pigs or wild boar.


People acquire trichinellosis by consuming raw or undercooked meat infected with the Trichinella parasite, particularly wild game meat or pork. Even tasting very small amounts of undercooked meat during preparation or cooking puts you at risk for infection. Outbreaks occur in settings where multiple people consume the same Trichinella-infected meat.
Worldwide, an estimated 10,000 cases of trichinellosis occur every year. Several different species of Trichinella can cause human disease; the most common species is Trichinella spiralis, which has a global distribution and is the species most commonly found in pigs. Other Trichinella species are less commonly reported as the cause of human disease and may be found in different parts of the world, usually infecting wild animals.
In the United States, trichinellosis cases are reported to CDC much less commonly now than in the past (Figure 1). During the late 1940s, when the U.S. Public Health Service began counting cases of trichinellosis, 400 cases in the United States were recorded each year on average. During 2008-2010, 20 cases were reported to CDC each year on average. The overall number of cases reported has decreased because of improved pig-raising practices in the pork industry, commercial and home freezing of pork, and public awareness of the danger of eating raw or undercooked meat products. The number of cases associated with raw or undercooked wild game meats has remained relatively constant over time (Figure 2). Over the past 40 years, few cases of trichinellosis have been reported in the United States, and the risk of trichinellosis from commercially raised and properly prepared pork is very low. However, eating undercooked wild game, particularly bear meat, puts one at risk for acquiring this disease.


A diagnosis of trichinellosis is made in patients whose signs and symptoms are compatible with trichinellosis, have a positive laboratory test for Trichinella, and who can recall eating raw or undercooked pork or wild game meat.

Laboratory diagnosis of Trichinella infection is most often made by a Trichinella antibody test. In some cases a muscle biopsy may be performed.

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Safe and effective prescription drugs are available to treat both Trichinella infection and the symptoms that occur as a result of infection. Treatment should begin as soon as possible; a doctor will make the decision to treat based upon symptoms, exposure to raw or undercooked meat, and laboratory test results.

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- Wash your hands with warm water and soap after handling raw meat.
    - Curing (salting), drying, smoking, or microwaving meat alone does not consistently kill infective worms; homemade jerky and sausage were the cause of many cases of trichinellosis reported to CDC in recent years.
    - Freeze pork less than 6 inches thick for 20 days at 5°F (-15°C) to kill any worms.
    - Freezing wild game meats, unlike freezing pork products, may not effectively kill all worms because some worm species that infect wild game animals are freeze-resistant.
    - Clean meat grinders thoroughly after each use.

To help prevent Trichinella infection in animal populations, do not allow pigs or wild animals to eat uncooked meat, scraps, or carcasses of any animals, including rats, which may be infected with Trichinella.


Striatonigral degeneration is a neurological disorder caused by a disruption in the connection between two areas of the brain-the striatum and the substantia nigra. These two areas work together to enable balance and movement. Striatonigral degeneration is a type of multiple system atrophy (MSA). Symptoms of the disorder resemble some of those seen in Parkinson's disease, including rigidity, instability, impaired speech, and slow movements.


There is no cure for striatonigral degeneration, and treatments for the disorder have variable success. Treatments used for Parkinson's disease are recommended. However, unlike Parkinson's disease, striatonigral degeneration is not responsive to levodopa. Dopamine and anticholinergics provide some benefit. Generally, treatment is reevaluated as the disorder progresses.


Striatonigral degeneration progresses slowly. Some patients have normal life expectancy.


The NINDS supports and conducts research on disorders of the brain and nervous system such as striatonigral degeneration. This research focuses on finding ways to prevent and treat these disorders.


Empty Sella Syndrome (ESS) is a disorder that involves the sella turcica, a bony structure at the base of the brain that surrounds and protects the pituitary gland. ESS is often discovered during radiological imaging tests for pituitary disorders. ESS occurs n up to 25 percent of the population.An individual with ESS may have no symptoms or may have symptoms resulting from partial or complete loss of pituitary function (including headaches, low sex drive, and impotence).There are two types of ESS: primary and secondary. Primary ESS happens when a small anatomical defect above the pituitary gland allows spinal fluid to partially or completely fill the sella turcica. This causes the gland to flatten out along the interior walls of the sella turcica cavity. Individuals with primary ESS may have high levels of the hormone prolactin, which can interfere with the normal function of the testicles and ovaries. Primary ESS is most common in adults and women, and is often associated with obesity and high blood pressure. In some instances the pituitary gland may be smaller than usual; this may be due to a condition called pseudotumor cerebri (which means "false brain tumor," brought on by high pressure within the skull), In rare instances this high fluid pressure can be associated with drainage of spinal fluid through the nose. Secondary ESS is the result of the pituitary gland regressing within the cavity after an injury, surgery, or radiation therapy. Individuals with secondary ESS can sometimes have symptoms that reflect the loss of pituitary functions, such as the ceasing of menstrual periods, infertility, fatigue, and intolerance to stress and infection. In children, ESS may be associated with early onset of puberty, growth hormone deficiency, pituitary tumors, or pituitary gland dysfunction. Magnetic resonance imaging (MRI) scans are useful in evaluating ESS and for identifying underlying disorders that may be the cause of high fluid pressure.


Unless the syndrome results in other medical problems, treatment for endocrine dysfunction associated with pituitary malfunction is symptomatic and supportive. Individuals with primary ESS who have high levels of prolactin may be given bromocriptine. In some cases, particularly when spinal fluid drainage is observed, surgery may be needed.


ESS is not a life-threatening condition. Most often, and particularly among those with primary ESS, the disorder does not cause health problems and does not affect life expectancy.


The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system, and to use that knowledge to reduce the burden of neurological disease. The NINDS supports and conducts fundamental studies that explore the complex mechanisms of normal brain development and to better understand neurological conditions such as ESS. The knowledge gained from these fundamental studies helps researchers understand neurodevelopment and provides opportunities to more effectively treat and perhaps even prevent, such disorders.


Primary lateral sclerosis (PLS) is a rare neuromuscular disease with slowly progressive weakness in voluntary muscle movement. PLS belongs to a group of disorders known as motor neuron diseases. PLS affects the upper motor neurons (also called corticospinal neurons) in the arms, legs, and face. It occurs when nerve cells in the motor regions of the cerebral cortex (the thin layer of cells covering the brain which is responsible for most higher level mental functions) gradually degenerate, causing movements to be slow and effortful. The disorder often affects the legs first, followed by the body, trunk, arms and hands, and, finally the bulbar muscles (muscles that control speech, swallowing, and chewing). Symptoms include weakness, muscle stiffness and spasticity, clumsiness, slowing of movement, and problems with balance and speech. PLS is more common in men than in women, with a varied gradual onset that generally occurs between ages 40 and 60. PLS progresses gradually over a number of years, or even decades. Scientists do not believe PLS has a simple hereditary cause. The diagnosis of PLS requires extensive testing to exclude other diseases. When symptoms begin, PLS may be mistaken for amyotrophic lateral sclerosis (ALS) or spastic paraplegia. Most neurologists follow an affected individual's clinical course for at least 3 to 4 years before making a diagnosis of PLS..


Treatment for individuals with PLS is symptomatic. Muscle relaxants such as baclofen, tizanidine, and the benzodiazepines may reduce spasticity. Other drugs may relieve pain and antidepressants can help treat depression. Physical therapy, occupational therapy, and rehabilitation may prevent joint immobility and slow muscle weakness and atrophy. Assistive devices such as supports or braces, speech synthesizers, and wheelchairs ma help some people retain independence.. Speech therapy may be useful for those with involvement of the facial muscles.


PLS is not fatal. There is no cure and the progression of symptoms varies. Some people may retain the ability to walk without assistance, but others eventually require wheelchairs, canes, or other assistive devices.


The NINDS conducts a broad range of research on neuromuscular disorders such as PLS. This research is aimed at developing techniques to diagnose, treat, prevent, and ultimately cure these devastating diseases.


The dystonias are movement disorders in which sustained muscle contractions cause twisting and repetitive movements or abnormal postures. The movements, which are involuntary and sometimes painful, may affect a single muscle; a group of muscles such as those in the arms, legs, or neck; or the entire body. Early symptoms may include deterioration in handwriting, foot cramps, or a dragging foot after running or walking some distance. Other possible symptoms are tremor and voice or speech difficulties. About half the cases of dystonia have no connection to disease or injury and are called primary or idiopathic dystonia. Of the primary dystonias, many cases appear to be inherited. Dystonias can also be symptoms of other diseases, some of which may be hereditary. Dystonia can occur at any age, but is often described as either early, or childhood, onset versus adult onset.


No one treatment has been found to be universally effective. Instead, doctors use a variety of therapies (medications, surgery, and other treatments such as physical therapy, splinting, stress management, and biofeedback) aimed at reducing or eliminating muscle spasms and pain. Since response to drugs varies among individuals and even in the same person over time, the most effective therapy is often individualized.


The initial symptoms can be very mild and may be noticeable only after prolonged exertion, stress, or fatigue. Dystonias often progress through various stages. Initially, dystonic movements are intermittent and appear only during voluntary movements or stress. Later, individuals may show dystonic postures and movements while walking and ultimately even while they are relaxed. Dystonic motions may lead to permanent physical deformities by causing tendons to shorten.


The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to dystonia in its laboratories at the National Institutes of Health (NIH) and also supports additional dystonia research through grants to major research institutions across the country. Scientists at other NIH Institutes (National institute on Deafness and Other Communications Disorders, National Eye Institute, and Eunice Kennnedy Shriver National Institute on Child Health and Human Development) also support research that may benefit individuals with dystonia. Investigators believe that the dystonias result from an abnormality in an area of the brain called the basal ganglia, where some of the messages that initiate muscle contractions are processed. Scientists at the NINDS laboratories have conducted detailed investigations of the pattern of muscle activity in persons with dystonias. Studies using EEG analysis and neuroimaging are probing brain activity. The search for the gene or genes responsible for some forms of dominantly inherited dystonias continues.


Farbers disease, also known as Farber's lipogranulomatosis, describes a group of inherited metabolic disorders called lipid storage diseases, in which excess amounts of lipids (oils, fatty acids, and related compounds) build up to harmful levels in the joints, tissues, and central nervous system. The liver, heart, and kidneys may also be affected. Disease onset is typically seen in early infancy but may occur later in life. Symptoms of the classic form may have moderately impaired mental ability and difficulty with swallowing. Other symptoms may include chronic shortening of muscles or tendons around joints. arthritis, swollen lymph nodes and joints, hoarseness, nodules under the skin (and sometimes in the lungs and other parts of the body), and vomiting. Affected persons may require the insertion of a breathing tube. In severe cases, the liver and spleen are enlarged. Farber's disease is caused by a deficiency of the enzyme ceramidase. The disease occurs when both parents carry and pass on the defective gene that regulates the protein sphingomyelin. Children born to these parents have a 25 percent chance of inheriting the disorder and a 50 percent chance of carrying the faulty gene. The disorder affects both males and females.


Currently there is no specific treatment for Farbers disease. Corticosteroids may help relieve pain. Bone marrow transplants may improve granulomas (small masses of inflamed tissue) on individuals with little or no lung or nervous system complications. Older persons may have granulomas surgically reduced or removed.


Most children with the classic form of Farbers disease die by age 2, usually from lung disease. Children born with the most severe form of the disease usually die within 6 months, while individuals having a milder form of the disease may live into their teenage years or young adulthood.


The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. Research funded by the NINDS focuses on better understanding of how neurological deficits arise in lipid storage diseases and on the development of new treatments targeting disease mechanisms, including gene therapies, cell-based therapies and pharmacological approaches. The NINDS, along with other Institutes and Centers at the National Institutes of Health, supports the Lysosomal Disease network of centers that addresses some of the major challenges in the diagnosis, management, and therapy of rare diseases, including the lipid storage diseases.Research on lipid storage diseases within the Network includes longitudinal studies of the natural history and/or treatment of these disorders. Additional studies will emphasize the quantitative analysis of the central nervous system structure and function, and develop biomarkers (signs that can indicate the diagnosis or progression of a disease) for these disorders.


Familial periodic paralyses are a group of inherited neurological disorders caused by mutations in genes that regulate sodium and calcium channels in nerve cells. They are characterized by episodes in which the affected muscles become slack, weak, and unable to contract. Between attacks, the affected muscles usually work as normal.

The two most common types of periodic paralyses are: Hypokalemic periodic paralysis is characterized by a fall in potassium levels in the blood. In individuals with this mutation attacks often begin in adolescence and are triggered by strenuous exercise, high carbohydrate meals, or by injection of insulin, glucose, or epinephrine. Weakness may be mild and limited to certain muscle groups, or more severe and affect the arms and legs. Attacks may last for a few hours or persist for several days. Some patients may develop chronic muscle weakness later in life. Hyperkalemic periodic paralysis is characterized by a rise in potassium levels in the blood. Attacks often begin in infancy or early childhood and are precipitated by rest after exercise or by fasting. Attacks are usually shorter, more frequent, and less severe than the hypokalemic form. Muscle spasms are common.


Treatment of the periodic paralyses focuses on preventing further attacks and relieving acute symptoms. Avoiding carbohydrate-rich meals and strenuous exercise, and taking acetazolamide daily may prevent hypokalemic attacks. Attacks can be managed by drinking a potassium chloride oral solution. Eating carbohydrate-rich, low-potassium foods, and avoiding strenuous exercise and fasting, can help prevent hyperkalemic attacks. Dichorphenamide may prevent attacks.


The prognosis for the familial periodic paralyses varies. Chronic attacks may result in progressive weakness that persists between attacks. Some cases respond well to treatment, which can prevent or reverse progressive muscle weakness.


The NINDS conducts and supports research on neuromuscular disorders such as the familial periodic paralyses. These studies are aimed at increasing knowledge about these disorders and finding ways to prevent, treat, and cure them.


A spinal cord injury usually begins with a sudden, traumatic blow to the spine that fractures or dislocates vertebrae. The damage begins at the moment of injury when displaced bone fragments, disc material, or ligaments bruise or tear into spinal cord tissue. Most injuries to the spinal cord don't completely sever it. Instead, an injury is more likely to cause fractures and compression of the vertebrae, which then crush and destroy axons -- extensions of nerve cells that carry signals up and down the spinal cord between the brain and the rest of the body. An injury to the spinal cord can damage a few, many, or almost all of these axons. Some injuries will allow almost complete recovery. Others will result in complete paralysis.


Improved emergency care for people with spinal cord injuries and aggressive treatment and rehabilitation can minimize damage to the nervous system and even restore limited abilities. Respiratory complications are often an indication of the severity of spinal cord injury About one-third of those with injury to the neck area will need help with breathing and require respiratory support. The steroid drug methylprednisolone appears to reduce the damage to nerve cells if it is given within the first 8 hours after injury. Rehabilitation programs combine physical therapies with skill-building activities and counseling to provide social and emotional support.Electrical simulation of nerves by neural prosthetic devices may restore specific functions, including bladder, breathing, cough, and arm or leg movements, though eligibility for use of these devices depends on the level and type of the spinal cord injury.


Spinal cord injuries are classified as either complete or incomplete. An incomplete injury means that the ability of the spinal cord to convey messages to or from the brain is not completely lost. People with incomplete injuries retain some motor or sensory function below the injury. A complete injury is indicated by a total lack of sensory and motor function below the level of injury. People who survive a spinal cord injury will most likely have medical complications such as chronic pain and bladder and bowel dysfunction, along with an increased susceptibility to respiratory and heart problems. Successful recovery depends upon how well these chronic conditions are handled day to day.

Surgery to relieve compression of the spinal tissue by surrounding bones broken or dislocated by the injury is often necessary, through timing of such surgery may vary widely. A recent prospective multicenter trial called STASCIS is exploring whether performing decompression surgery early (less than 24 hours following injury) can improve outcomes for patients with bone fragments or other tissues pressing on the spinal cord.


The National Institute of Neurological Disorders and Stroke (NINDS) conducts spinal cord research in its laboratories at the National Institutes of Health (NIH) and also supports additional research through grants to major research institutions across the country. Advances in research are giving doctors and patients hope that repairing injured spinal cords is a reachable goal. Advances in basic research are also being matched by progress in clinical research, especially in understanding the kinds of physical rehabilitation that work best to restore function. Some of the more promising rehabilitation techniques are helping spinal cord injury patients become more mobile.


Todd's paralysis is a neurological condition experienced by individuals with epilepsy, in which a seizure is followed by a brief period of temporary paralysis. The paralysis may be partial or complete but usually occurs on just one side of the body. The paralysis can last from half an hour to 36 hours, with an average of 15 hours, at which point it resolves completely. Todd's paralysis may also affect speech and vision. Scientists don't know what causes Todd's paralysis. Current theories propose biological processes in the brain that involve a slow down in either the energy output of neurons or in the motor centers of the brain. It is important to distinguish Todd's paralysis from a stroke, which it can resemble, because a stroke requires completely different treatment.


There is no treatment for Todd's paralysis. Individuals must rest as comfortably as possible until the paralysis disappears.


Todd's paralysis is an indication that an individual has had an epileptic seizure. The outcome depends on the effects of the seizure and the subsequent treatment of the epilepsy.


The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to Todd's paralysis in its clinics and laboratories at The National Institutes of Health (NIH), and supports additional research through grants to major medical institutions across the country. Much of this research focuses on finding successful methods to prevent Todd's paralysis in individuals with epilepsy.


Syncope is a medical term used to describe a temporary loss of consciousness due to the sudden decline of blood flow to the brain. Syncope is commonly called fainting or passing out. If an individual is about to faint, he or she will feel dizzy, lightheaded, or nauseous and their field of vision may white out or black out. The skin may be cold and clammy. The person drops to the floor as he or she loses consciousness. After fainting, an individual may be unconscious for a minute or two, but will revive and slowly return to normal. Syncope can occur in otherwise healthy people and affects all age groups, but occurs more often in the elderly.

Vasovagal

Carotid sinus

Situational


The immediate treatment for an individual who has fainted involves checking first to see if their airway is open and they are breathing. The person should remain lying down for at least 10-15 minutes, preferably in a cool and quiet space. If this isnt possible, have the individual sit forward and lower their head below their shoulders and between their knees. Ice or cold water in a cup is refreshing. For individuals who have problems with chronic fainting spells, therapy should focus on recognizing the triggers and learning techniques to keep from fainting. At the appearance of warning signs such as lightheadedness, nausea, or cold and clammy skin, counter-pressure maneuvers that involve gripping fingers into a fist, tensing the arms, and crossing the legs or squeezing the thighs together can be used to ward off a fainting spell. If fainting spells occur often without a triggering event, syncope may be a sign of an underlying heart disease.


Syncope is a dramatic event and can be life-threatening if not treated properly. Generally, however, people recover completely within minutes to hours. If syncope is symptomatic of an underlying condition, then the prognosis will reflect the course of the disorder.


The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to syncope in laboratories at the NIH and support additional research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent and treat syncope.


The term cerebral palsy refers to a group of neurological disorders that appear in infancy or early childhood and permanently affect body movement, muscle coordination, and balance.CP affects the part of the brain that controls muscle movements. The majority of children with cerebral palsy are born with it, although it may not be detected until months or years later.The early signs of cerebral palsy usually appear before a child reaches 3 years of age.The most common are a lack of muscle coordination when performing voluntary movements (ataxia); stiff or tight muscles and exaggerated reflexes (spasticity); walking with one foot or leg dragging; walking on the toes, a crouched gait, or a scissored gait; and muscle tone that is either too stiff or too floppy.Other neurological symptoms that commonly occur in individuals with CP include seizures, hearing loss and impaired vision, bladder and bowel control issues, and pain and abnormal sensations. A small number of children have CP as the result of brain damage in the first few months or years of life, brain infections such as bacterial meningitis or viral encephalitis, or head injury from a motor vehicle accident, a fall, or child abuse. The disorder isn't progressive, meaning that the brain damage typically doesn't get worse over time. Risk factors associated with CP do not cause the disorder but can increase a child's chance of being born with the disorder.CP is not hereditary.


Cerebral palsy cant be cured, but treatment will often improve a child's capabilities. In general, the earlier treatment begins the better chance children have of overcoming developmental disabilities or learning new ways to accomplish the tasks that challenge them.Early intervention, supportive treatments, medications, and surgery can help many individuals improve their muscle control. Treatment may include physical and occupational therapy, speech therapy, drugs to control seizures, relax muscle spasms, and alleviate pain; surgery to correct anatomical abnormalities or release tight muscles; braces and other orthotic devices; wheelchairs and rolling walkers; and communication aids such as computers with attached voice synthesizers.


Cerebral palsy doesnt always cause profound disabilities and for most people with CP the disorder does not affect life expectancy. Many children with CP have average to above average intelligence and attend the same schools as other children their age. Supportive treatments, medications, and surgery can help many individuals improve their motor skills and ability to communicate with the world..While one child with CP might not require special assistance, a child with severe CP might be unable to walk and need extensive, lifelong care.


The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge of the brain and nervous system and to use that knowledge to reduce the burden of neurological disease.The NINDS is a component of the National Institutes of Health, the leading supporter of biomedical research in the world. Researchers supported by the NINDS are investigating the roles of mishaps early in brain development, including genetic defects, which are sometimes responsible for the brain malformations and abnormalities that result in cerebral palsy.Scientists are also looking at traumatic events in newborn babies brains, such as bleeding, epileptic seizures, and breathing and circulation problems, which can cause the abnormal release of chemicals that trigger the kind of damage that causes cerebral palsy. NINDS-supported researchers also hope to find ways to prevent white matter disease, the most common cause of cerebral palsy. To make sure children are getting the right kinds of therapies, studies are also being done that evaluate both experimental treatments and treatments already in use so that physicians and parents have valid information to help them choose the best therapy.


Tuberous sclerosis (TSC) is a rare genetic disease that causes benign tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin. It usually affects the central nervous system. In addition to the benign tumors that frequently occur in TSC, other common symptoms include seizures,impaired intellectual development, behavior problems, and skin abnormalities. TSC may be present at birth, but signs of the disorder can be subtle and full symptoms may take some time to develop. Three types of brain tumors are associated with TSC: cortical tubers, which generally form on the surface of the brain; subependymal nodules, which form in the walls of the ventricles (the fluid-filled cavities of the brain); and giant-cell astrocytomas, a type of tumor that can block the flow of fluids within the brain.


There is no cure for TSC, although treatment is available for a number of the symptoms. Rapamycin and related drugs are not yet approved by the U.S. Food and Drug Administration (FDA) for any purpose in individuals with TSC. The FDA has approved the drug everolimus (Afinitor) to treat subependymal giant cell astrocytomas (SEGA brain tumors) and angiomyolipoma kidney tumors. Antiepileptic drugs such as vigabatrin may be used to control seizures and medications may be prescribed for behavior problems. Intervention programs, including special schooling and occupational therapy, may benefit individuals with special needs and developmental issues. Surgery, including dermabrasion and laser treatment, may be useful for treatment of skin lesions. Because TSC is a lifelong condition, individuals need to be regularly monitored by a doctor. Due to the many varied symptoms of TSC, care by a clinician experienced with the disorder is recommended.


The prognosis for individuals with TSC depends on the severity of symptoms. Individuals with mild symptoms generally do well and live long productive lives, while individuals with the more severe form may have serious disabilities. In rare cases, seizures, infections, or tumors in vital organs such as the kidneys and brain can lead to severe complications and even death. However, with appropriate medical care, most individuals with the disorder can look forward to normal life expectancy.


The National Institute of Neurological Disorders and Stroke (NINDS) conducts TSC research in its laboratories at the National Institutes of Health (NIH) and also supports TSC research through grants to major medical institutions across the country. Scientists in one study are learning more about the genes that can cause TSC and the function of the proteins those genes produce. Another study focuses on two major brain disorders --autism and epilepsy -- that occur in children with TSC. Other scientists are trying to determine what causes skin tumors to develop in individuals with TSC and to find the molecular basis of these tumors. Scientists hope knowledge gained from their current research will improve the genetic test for TSC and lead to new avenues of treatment, methods of prevention, and, ultimately, a cure.


Batten disease is a fatal, inherited disorder of the nervous system that begins in childhood. In some cases, the early signs are subtle, taking the form of personality and behavior changes, slow learning, clumsiness, or stumbling. Symptoms of Batten disease are linked to a buildup of substances called lipopigments in the body's tissues. Lipopigments are made up of fats and proteins. Because vision loss is often an early sign, Batten disease may be first suspected during an eye exam. Often, an eye specialist or other physician may refer the child to a neurologist. Diagnostic tests for Batten disease include blood or urine tests, skin or tissue sampling, an electroencephalogram (EEG), electrical studies of the eyes, and brain scans.


As yet, no specific treatment is known that can halt or reverse the symptoms of Batten disease. However, seizures can sometimes be reduced or controlled with anticonvulsant drugs, and other medical problems can be treated appropriately as they arise. Physical therapy and occupational therapy may help patients retain functioning as long as possible.


Over time, affected children suffer cognitive impairment, worsening seizures, and progressive loss of sight and motor skills. Eventually, children with Batten disease become blind, bedridden, and demented. Batten disease is often fatal by the late teens or twenties.


The biochemical defects that underlie several NCLs have recently been discovered. An enzyme called palmitoyl-protein thioesterase has been shown to be insufficiently active in the infantile form of Batten disease (this condition is now referred to as CLN1). In the late infantile form (CLN2), a deficiency of an acid protease, an enzyme that hydrolyzes proteins, has been found as the cause of this condition. A mutated gene has been identified in juvenile Batten disease (CLN3), but the protein for which this gene codes has not been identified. In addition, research scientists are working with NCL animal models to improve understanding and treatment of these disorders. One research team, for example, is testing the usefulness of bone marrow transplantation in a sheep model, while other investigators are working to develop mouse models. Mouse models will make it easier for scientists to study the genetics of these diseases.


Holoprosencephaly is a disorder caused by the failure of the prosencephalon (the embryonic forebrain) to sufficiently divide into the double lobes of the cerebral hemispheres. The result is a single-lobed brain structure and severe skull and facial defects. In most cases of holoprosencephaly, the malformations are so severe that babies die before birth. In less severe cases, babies are born with normal or near-normal brain development and facial deformities that may affect the eyes, nose, and upper lip.

There are three classifications of holoprosencephaly. Alobar, in which the brain has not divided at all, is usually associated with severe facial deformities. Semilobar, in which the brain's hemispheres have somewhat divided, causes an intermediate form of the disorder. Lobar, in which there is considerable evidence of separate brain hemispheres, is the least severe form. In some cases of lobar holoprosencephaly the baby's brain may be nearly normal.

The least severe of the facial anomalies is the median cleft lip (premaxillary agenesis). The most severe is cyclopia, an abnormality characterized by a single eye located in the area normally occupied by the root of the nose, and a missing nose or a proboscis (a tubular-shaped nose) located above the eye. The least common facial anomaly is ethmocephaly, in which a proboscis separates closely-set eyes. Cebocephaly, another facial anomaly, is characterized by a small, flattened nose with a single nostril situated below incomplete or underdeveloped closely-set eyes.


There is no standard course of treatment for holoprosencephaly. Treatment is symptomatic and supportive.


The prognosis for individuals with the disorder depends on the severity of the brain and facial deformities.


The NINDS supports and conducts a wide range of studies that focus on identifying and learning more about the factors involved in normal brain development. Recent research has identified specific genes that cause holoprosencephaly. The knowledge gained from these fundamental studies provides the foundation for understanding how to develop new ways to treat, and potentially prevent, this disorder.


Bell's palsy is a form of temporary facial paralysis resulting from damage or trauma to the 7th cranial nerve, one of the facial nerves. It is the most common cause of facial paralysis. Generally, Bell's palsy affects only one side of the face, however, in rare cases, it can affect both sides. Symptoms usually begin suddenly and reach their peak within 72 hours, and can range in severity from mild weakness to total paralysis. Symptoms vary among individuals and include sudden weakness on one side of the face, drooping eyelid or corner of the mouth, drooling, dry eye or mouth, altered taste, and excessive tearing in the eye. Bells palsy can cause significant facial distortion. The exact cause of Bell's palsy isn't known, but many scientists believe that reactivation of a dormant viral infection can cause the facial nerve to swell and becomes inflamed. Several other conditions can cause facial paralysis that might be diagnosed as Bell's palsy..


Steroids such as prednisone -- used to reduce inflammation and swelling -- are an effective treatment for Bell's palsy. Antiviral drugs may have some benefit in shortening the course of the disease. Analgesics such as aspirin, acetaminophen, or ibuprofen may relieve pain. Because of possible drug interactions, individuals should always talk to their doctors before taking any over-the-counter medicines. Keeping the eye moist and protecting it from debris and injury, especially at night, is important. Lubricating eye drops can help. Other therapies such as physical therapy, facial massage or acupuncture may provide a potential small improvement in facial nerve function and pain..


The prognosis for individuals with Bell's palsy is generally very good. The extent of nerve damage determines the extent of recovery. With or without treatment, most individuals begin to get better within 2 weeks after the initial onset of symptoms and recover some or all facial function within 3 to 6 months.


The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge of the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS conducts and supports an extensive research program of basic science to increase understanding of how the nervous system works and circumstances that lead to nerve damage. Knowledge gained from this research may help scientists find the definitive cause of Bell's palsy, leading to the discovery of new effective treatments for the disorder. Other NINDS-supported research is aimed at developing methods to repair damaged nerves and restore full use and strength to injured areas, and finding ways to prevent nerve damage and injuries from occurring.


Multiple system atrophy (MSA) is a progressive neurodegenerative disorder characterized by symptoms of autonomic nervous system failure such as fainting spells and bladder control problems, combined with motor control symptoms such as tremor, rigidity, and loss of muscle coordination. MSA affects both men and women primarily in their 50s. Although what causes MSA is unknown, the disorder's symptoms reflect the loss of nerve cells in several different areas in the brain and spinal cord that control the autonomic nervous system and coordinate muscle movements. The loss of nerve cells may be due to the buildup of a protein called alpha-synuclein in the cells that support nerve cells in the brain.


There is no cure for MSA. Currently, there are no treatments to delay the progress of neurodegeneration in the brain. But there are treatments available to help people cope with some of the more disabling symptoms of MSA. In some individuals, levodopa may improve motor function, but the benefit may not continue as the disease progresses.


The disease tends to advance rapidly over the course of 5 to 10 years, with progressive loss of motor skills, eventual confinement to bed, and death. There is no remission from the disease. There is currently no cure.


The NINDS supports research about MSA through grants to major medical institutions across the country. Researchers hope to learn why alpha-synuclein buildup occurs in MSA and Parkinsons disease, and how to prevent it. Drugs that reduce the abnormal alpha-synuclein buildup may be promising treatments for MSA


Giant axonal neuropathy (GAN) is a rare inherited genetic disorder that affects both the central and peripheral nervous systems. The majority of children with GAN will begin to show symptoms of the disease sometime before five years of age. Signs of GAN usually begin in the peripheral nervous system, which controls movement and sensation in the arms, legs, and other parts of the body. The typical symptoms of GAN are clumsiness and muscle weakness that progresses from a waddling gait to a pronounced difficulty in walking. Additional symptoms include numbness or lack of feeling in the arms and legs, seizures, nystagmus (rapid back and forth movement of the eyes), and impaired cognitive development. A characteristic sign of the disease is dull, tightly curled hair that is markedly different from the parents in color and texture.

Researchers have discovered more than 20 different mutations associated with GAN in a gene, GAN1, which makes a protein called gigaxonin. These mutations disrupt the regulation or production of gigaxonin in the nervous system. As a result, axons, which are the long tails of neurons that allow them to communicate with other nerve cells, swell up with tangled filaments and become abnormally large. Eventually these axons deteriorate and cause problems with movement and sensation since neurons are no longer able to communicate with each other.

Doctors diagnose GAN by using several tests, including one that measures nerve conduction velocity, a brain MRI, and a peripheral nerve biopsy (in which a bit of tissue from a peripheral nerve is removed and examined to look for swollen axons). A definitive diagnosis using genetic testing is available on a research basis only.

GAN is inherited in an autosomal recessive pattern, which means that both parents of a child with GAN have to carry a copy of the mutated gene. Parents, typically, will show no signs of the disease.


Treatment is symptomatic. Children with GAN and their families usually work with a medical team that includes a pediatric neurologist, orthopedic surgeon, physiotherapist, psychologist, and speech and occupational therapists. The major goals of treatment are to maximize intellectual and physical development and minimize their deterioration as time passes. Many children with GAN begin with normal intellectual development and are able to attend a regular school program. Children should be monitored at least once a year to assess their intellectual abilities and to look for the presence of neurological deterioration.