• Disease Overview
  • Synonyms
  • Signs & Symptoms
  • Causes
  • Affected Populations
  • Disorders with Similar Symptoms
  • Standard Therapies
  • Clinical Trials and Studies
  • References
  • Programs & Resources
  • Complete Report
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Tuberculosis

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Last updated: 11/18/2024
Years published: 1987, 1988, 1989, 1991, 1992, 1993, 1996, 1997, 1998, 1999, 2000, 2001, 2002, 2006, 2009, 2024


Acknowledgment

NORD gratefully acknowledges Gioconda Alyea, MD (FMG), MS, National Organization for Rare Disorders, for assistance in the preparation of this report.


Disease Overview

Tuberculosis (TB) is an acute or chronic bacterial infection found mostly in the lungs. The infection spreads like a cold, mainly through airborne droplets breathed into the air when a person who is infected with TB coughs, sneezes or spits.1

Tuberculosis (TB) is caused by a bacterium (or germ) called Mycobacterium tuberculosis. The bacteria cause formation of small tissue masses called tubercles. In the lungs these tubercles lead to breathing impairment, coughing and release of sputum. Those who are infected but not (yet) ill with the disease cannot transmit it.2,3

TB may recur after long periods of inactivity (latency) if not treated adequately. There are several forms of TB which are distinguished by the area of the body affected, degree of severity and affected population.

TB today is considered curable and preventable, and it is usually treated with antibiotics but can be fatal without treatment.4

In certain countries, the Bacille Calmette-Guérin (BCG) vaccine is given to babies or small children to prevent TB. About a quarter of the global population is estimated to have been infected with TB bacteria. About 5%–10% of people infected with TB will eventually get symptoms and develop TB disease. It is very rare in the United States but is on a rise.5,6,7

In United States the Centers for Disease Control and Prevention (CDC) has a Division of Tuberculosis Elimination which has as a goal controlling and eventually eliminating TB in the United States. The CDC has detailed information about tuberculosis including Types, Signs and symptoms, Risk factors, How it spreads, Prevention, Quick facts, Testing, Treatment, Vaccines and Resources.

The World Health Organization (WHO) is the world organization that works to end tuberculosis (TB). The WHO’s Global Tuberculosis Programme (GTB) aims to eliminate TB and its suffering, disease and deaths. It includes information about the different regions.

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Synonyms

  • consumption
  • TB
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Signs & Symptoms

People with inactive tuberculosis (latent TB) don’t have any symptoms of TB disease, but without treatment, their TB infection can become active over time and cause illness. People with weakened immunity (from HIV, cancer, etc.) and young children are at higher risk of progression to active TB, particularly within two years of infection.1,2

TB most commonly affects the lungs, but it can also spread to other parts of the body including the kidneys, bones, lymph nodes and brain.1

In the early stages of TB affected people might experience general symptoms such as:1,2

  • Fever
  • Loss of appetite
  • Weight loss
  • Weakness
  • Occasionally a dry cough

When TB becomes active in the lungs it can cause more noticeable symptoms including:

  • A persistent cough that lasts three weeks or longer
  • Chest pain
  • Coughing up blood or sputum (phlegm) from deep inside the lungs

Other symptoms of active TB include:

  • Weakness or fatigue
  • Weight loss and lack of appetite
  • Chills and fever
  • Sweating at night

In later stages, blood may appear in the sputum. This can indicate bleeding in the lungs due to damage from the infection, which is dangerous and can be fatal if untreated.

Types of tuberculosis1,2,8,9,10,11,12,13,14,15

TB disease can occur in the lung (pulmonary TB) and also in other organs that are not the lung (extrapulmonary TB). TB disease happens when TB bacteria overpower the immune system, often progressing from a latent (inactive) infection to active disease. If the immune system can’t control the bacteria, they multiply quickly, affecting areas like the lungs, kidneys, brain, or bones.

  • Pulmonary TB: Pulmonary TB disease affects the lungs. People with pulmonary TB disease usually have a cough and an abnormal chest radiograph. Most TB cases are pulmonary. It’s often contagious.
  • Extrapulmonary TB: This is TB that occurs outside the lungs, anywhere in the body. It is usually not infectious unless the person also has a pulmonary disease, when the infection is located in the mouth or the larynx, or where there is an open abscess or lesion. Subtypes of extrapulmonary TB include:
  • Miliary TB, a rare, serious form where bacteria spread through the bloodstream and often affects multiple organs.
    • “Miliary” refers to the radiograph appearance of millet seeds scattered through the lungs.
    • It is more common in babies and children younger than 5 years of age and in people who are immunocompromised such as people who have AIDS, but anyone could be affected.
    • It is fatal if untreated.
    • Up to 25% of patients with miliary TB disease may have meningeal involvement (the meninges are three layers of membranes that cover and protect the brain and spinal cord).
  • Cutaneous tuberculosis (CTB) affects the skin. It has eight subtypes, each presenting differently. All forms are treatable with a 6-month, four-drug anti-tuberculosis treatment (ATT) and sometimes with surgical debridement, a procedure that removes the affected tissue. These forms include:
    • Lupus vulgaris (LV), common in children, causes painless plaques or nodules (lumps) that break the skin (ulcerate) and become scaly
    • Tuberculous chancre, caused from external exposure, firm ulcers (open sores) containing many bacteria that cause TB
    • Tuberculosis verrucose cutis (TVC), characterized by small papules (small bumps) progressing to wart-like lesions
    • Periorificial lesions, which are rare, painful oral (around the mouth) or perineal (around the anus) ulcers
    • Scrofuloderma, a form most common in children with nodules and purulent sinus tracts (infected tract leading from a focus of infection to the skin)
    • Tuberculosis miliaris cutis disseminate, characterized by widespread papules and little sacs filled with pus (vesicles)
    • Metastatic abscesses (also known as tuberculous gumma or cutis colliquativa tuberculosis) characterized by multiple ulcerating nodules, especially affecting the legs
    • Tuberculids, which include:
      • lichen scrofulosorum (LS), presenting as lichenoid papules (flat topped and scaly lesions resembling lichen)
      • papulonecrotic tuberculid with necrotic papules, where the skin looks damaged
    • Lymph node tuberculosis, an adult form of TB involving the lymph nodes
      • This disorder is marked by swelling and fever.
    • Tuberculous arthritis, which usually presents after pulmonary TB that spread to bones and joints
      • Tuberculosis of the spine (Pott disease of spine TB) is the most common site, followed by the hip joint, which makes about 15% of all cases.
    • Tubercular arthropathy can affect any joint and usually affects only one joint (monoarticular).
  • Tuberculous meningitis, which involves the brain and spinal cord (central nervous system) and is usually found in children aged one to five years although it may occur at any age
    • Initial symptoms include headaches and behavioral changes.
    • Later symptoms may include seizures, hydrocephalus (accumulation of fluid in the brain cavity), intellectual disability and other neurological abnormalities.
  • Pleural tuberculosis or tuberculous pleural effusion (a condition where fluid builds up in the pleural space, the thin cavity between the lungs and chest wall) is the second most common form of extrapulmonary tuberculosis (TB) (after lymphatic involvement)
    • It is the most common cause of pleural effusion in areas where TB is frequent.
    • Surgical drainage to drain the liquid in the lung cavity may be required as well as antituberculosis treatment.
  • Genitourinary tuberculosis (GT), a form of extrapulmonary tuberculosis, affecting the kidneys, bladder, ureters, and genitalia in both males and females
    • Accounts for about 20% of all extrapulmonary tuberculosis cases
    • GT typically results from blood spread from the initial infection in the lung
    • The disease can lead to severe complications, including obstructive uropathy, hydronephrosis, renal failure and infertility due to granulomatous inflammation and scarring of the affected organs.
  • Abdominal peritonitis tuberculous, a rare but serious infection that occurs when tuberculosis (TB) spreads to the peritoneum, the lining of the abdomen
    • Of all sites affected by extrapulmonary TB, the abdomen is the sixth most common after lymphatic, genitourinary, bone and joint, miliary and meningeal involvement.
    • Peritoneal TB, the main but not the only form of intra-abdominal TB
    • Symptoms, when existing, include local tenderness and signs of infection.
  • Tuberculous pericarditis, usually due to spread from infected mediastinal nodes (separating the lungs) and affects the membrane around the heart
    • Surgery may be necessary in the more serious cases of this type of TB.
  • Silicotuberculosis, a tuberculosis caused by the infection by Mycobacterium tuberculosis in people affected with silicosis (a condition that is caused by inhalation of silica dust particles)
    • The risk of a patient with silicosis developing pulmonary tuberculosis and extra-pulmonary tuberculosis is higher than in a healthy population.
  • Tuberculosis of the larynx (voice box), characterized by hoarseness or voice changes

Drug-resistant TB disease: is caused by M. tuberculosis organisms that are resistant to the drugs normally used to treat the disease. Resistant strains require different treatments and are managed carefully to prevent further spread.16

Tuberculosis in children can be fatal if not treated. Once infected with TB germs, children, especially children younger than 5 years of age, are more likely to get sick with active TB disease and to get sick more quickly than adults. Babies and young children are more likely than older children and adults to develop severe forms of TB disease (such as TB disease of the brain (TB meningitis) or miliary TB disease).17

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Causes

Tuberculosis is caused by a bacterium (or germ) called Mycobacterium tuberculosis or M tuberculosis. TB germs can get into the air when someone with active TB disease coughs, speaks or sings and people nearby may breathe in these germs and become infected. People with inactive TB, also called latent TB infection, cannot spread TB germs to others.2,3

Without treatment, people with inactive TB can develop active TB disease at any time and become sick. About 90% of people infected with TB develop latent infection. About 5% of people infected with TB develop active disease within the first 2 years after infection and an additional 5% develop the infection later. The risk factors associated with the development of active TB are having a low immune state, tobacco use and excessive alcohol use.3,5,6,7

Other bacteria such as M bovis, M africanum, and M canetii can also infect humans.

  1. bovisis mostly found in cattle and animals such as bison, elk and deer. M. bovistransmission from cattle to people was once common in the United States. Thanks to over a century of disease control in cattle and routine pasteurization of cow’s milk, this is much less common.4
  2. Mafricanumis restricted to West Africa where it remains an important cause of tuberculosis.5

Mycobacterium canettii is a member of the Mycobacterium tuberculosis complex (MTBC) and is considered the precursor species of Mycobacterium tuberculosis. Most of the reported cases with M. canettii are from Africa.

Mycobacterium tuberculosis is part of the Mycobacterium tuberculosis complex (MTBC), a group of Mycobacterium species that also includes Mycobacterium africanum, Mycobacterium bovis, and Mycobacterium canettii. Studies show that all species within the MTBC are related genetically, suggesting that they should be considered as a single species, Mycobacterium tuberculosis. It was proposed merging these species under M. tuberculosis, while keeping historical names as “variants” to describe the unique characteristics of each group. For example, M. bovis would now be named M. tuberculosis var. bovis, retaining its historical identity but within the unified species M. tuberculosis.18

The Centers for Disease Control and Prevention has information about the causes of tuberculosis.

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Affected populations

In United States the National TB Surveillance System collects information on each newly reported case of tuberculosis (TB) disease in the U.S. The program is a cooperative effort of CDC and state and local health departments who report cases of TB to CDC.19,20,21

Learn About TB Surveillance System at the CDC website.

As of March 28, 2024, tuberculosis (TB) in the United States showed the following numbers:19,20,21

  • 8,331: reported TB casesin the United States in 2022 (a rate of 2.5 cases per 100,000 persons)
  • 60: jurisdictions(e.g., states, cities, U.S. territories, and affiliated areas) that report TB data to CDC
  • Up to 13 million: estimated number of people in the United States living with latent TB infection

About 85% of TB cases in the U.S. result from latent TB infection reactivating rather than new transmissions. This means most TB cases aren’t from recent infections but are reactivations of past, dormant infections.

To reduce the cases of TB in USA, screening populations at higher risk for TB and treating both latent and active TB cases are critical. Promptly identifying TB, starting effective treatment quickly and assessing anyone exposed to prevent further transmission.

In the world, an estimated 10.8 million people became ill with TB in 2023 including 6 million men, 3.6 million women and 1.3 million children. TB affects people in every country and age group, but it is curable and preventable with proper care.

Ending the TB world epidemic by 2030 is a key goal of the United Nations’ health initiatives.

With coordinated global and national efforts, these targets are essential to reducing TB rates, preventing outbreaks and improving health worldwide.

People with a suppressed immune system, such as AIDS patients and persons taking drugs to suppress the body’s immune response to transplants, are at increased risk from exposure to TB.

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Standard Therapies

Tuberculosis (TB) is a serious infection that can be treated with different medication regimens.5

TB treatment in the U.S. can vary in length, usually lasting 4, 6, or 9 months depending on the specific medication regimen prescribed. Below are the main options:4

  • 4-month rifapentine and moxifloxacin regimen:
    This is a newer, shorter treatment option that includes rifapentine, moxifloxacin, isoniazid and pyrazinamide, all taken daily. Shorter treatments like this are helpful in making it easier for the affected person to complete their full course of treatment. The 4-month rifapentine-moxifloxacin regimen has an intensive phase of 2 months followed by a continuation phase of 2 months and 1 week (total 17 weeks for treatment).
  • 6- or 9-month RIPE regimen:
    This more traditional option includes four drugs: Rifampin, Isoniazid, Pyrazinamide, and Ethambutol. Although it may take longer, this regimen has proven effective for many people and can be adjusted based on individual needs. RIPE regimens for treating TB disease have an intensive phase of 2 months, followed by a continuation phase of either 4 or 7 months (total of 6 to 9 months for treatment).

Doctors select the best treatment plan based on:

  • Test results that show which medications will work best for the specific type of TB infection
  • Any other health conditions a patient may have (like HIV or diabetes)
  • The potential for drug interactions if a person is taking other medications

The four-month treatment plan is recommended for people ages 12 and older with body weight at or above 40 kg, with pulmonary TB caused by organisms that are not known or suspected of being drug-resistant, and who have no contraindications to this regimen.4

State health departments and specialized TB centers can provide added guidance and support to ensure successful treatment.

TB treatment requires close monitoring and support from healthcare professionals to ensure that all medications are taken as prescribed and that no drug resistance develops. TB can affect anyone, regardless of gender or background, and completing treatment is crucial for both recovery and preventing the spread of TB.4

Drug resistance is when a certain medication is not as effective as it was to treat a disease.

To make sure treatment is completed, many people use Directly Observed Therapy (DOT), where healthcare workers observe patients taking their medication. Video DOT (vDOT) is also an option, allowing patients to complete DOT remotely. The Centers for Disease Control and Prevention (CDC) supports both in-person and video-based DOT. The state or local TB control office has more information about eDOT policies and procedures.4

A TB vaccine called BCG (a weakened strain of Mycobacterium tuberculosis) is widely used in areas with high TB rates but is rarely used in the U.S. because TB rates are lower.

Both the 4-month and 6-month TB treatments require specific testing to ensure the medications are working effectively. These tests include:4

  • Rapid molecular testing: A rapid molecular test checks a sample from the lungs at the start of treatment to confirm the TB bacteria’s susceptibility to key medications (like isoniazid and rifampin). This is especially important for people at risk of drug-resistant TB.
  • Culture and smear testing: Monthly cultures check for TB bacteria until two consecutive tests show no TB, confirming that the treatment is working.
  • Drug susceptibility testing: This tests whether the TB bacteria in a person’s body are resistant to any of the TB drugs, which helps to customize treatment.
  • Blood tests: In the 4-month regimen, initial blood tests are recommended to check levels of important minerals (potassium, calcium and magnesium).

TB tests measure how the immune system reacts to antigens from the TB bacterium. The TB skin test, also known as the Mantoux tuberculin skin test, involves injecting a small amount of fluid under the skin in the arm. The TB blood test, also known as the interferon-gamma release assay (IGRA), involves taking a blood sample from a vein in the arm. In some people, the BCG TB vaccine may cause a positive TB skin test even if they are not infected with TB germs. Unlike the TB skin test, TB blood tests are not affected by prior BCG vaccination. Therefore, TB blood tests are the preferred test for people who have received the BCG TB vaccine.

People with latent TB don’t show symptoms and may not even know they have TB, but they can still spread it. School-aged children in the U.S. often receive a tuberculin skin test, which helps find hidden cases of TB. Blood tests can also identify latent TB and may be used with the skin test for better accuracy.

Hospitalization or isolation was once common for TB patients, but it is usually not necessary anymore. Only patients with severe symptoms or complications may need hospital care.

The Centers for Disease Control and Prevention (CDC) maintain an updated Treatment of TB Disease webpage that includes a regimen table, considerations for specific groups of people with TB disease and a comparison table of TB disease treatment regimens, as well as other relevant information including Staying on track with TB medicine (Pamphlet)  and Questions and Answers About TB.

Healthcare providers can contact their State TB Control Offices and the TB Centers of Excellence for Training, Education, and Medical Consultation for additional information.

The World Health Organization (WHO)  has released key updates to the treatment of drug-resistant tuberculosis: rapid communication, June 2024. For continued updated information please visit the WHO website.

The WHO consolidated guidelines on tuberculosis. Module 3: Diagnosis – Rapid diagnostics for tuberculosis detection, third edition is the latest document replacing the one issued in 2021. For continued updated information please visit the WHO website.

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Clinical Trials and Studies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: [email protected]

Some current clinical trials also are posted on the following page on the NORD website:
https://rarediseases.org/living-with-a-rare-disease/find-clinical-trials/

For information about clinical trials sponsored by private sources, contact: www.centerwatch.com

For information about clinical trials conducted in Europe, contact: https://www.clinicaltrialsregister.eu/

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References

  1. Clinical Overview of Tuberculosis Disease. Centers for Disease Control and Prevention. Oct 30, 2024. https://www.cdc.gov/tb/hcp/clinical-overview/tuberculosis-disease.html Accessed Nov 18, 2024.
  2. Signs and Symptoms of Tuberculosis. Centers for Disease Control and Prevention (CDC). March 6, 2024. https://www.cdc.gov/tb/signs-symptoms/index.html Accessed Nov 18, 2024.
  3. Tuberculosis: Causes and How It Spreads. Centers for Disease Control and Prevention (CDC). March 6, 2024. https://www.cdc.gov/tb/signs-symptoms/index.html Accessed Nov 18, 2024.
  4. Treatment for TB Disease. Centers for Disease Control and Prevention (CDC). March 22, 2023. https://www.cdc.gov/tb/topic/treatment/tbdisease.htm Accessed Nov 18, 2024.
  5. Tobin EH, Tristram D. Tuberculosis. [Updated 2024 Aug 11]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK441916/ Accessed Nov 18, 2024.
  6. Tuberculosis. Oct 29, 2024. https://www.who.int/news-room/fact-sheets/detail/tuberculosis Accessed Nov 18, 2024.
  7. Tuberculosis: Causes and How it Spreads. CDC. https://www.cdc.gov/tb/causes/index.html Accessed Nov 18, 2024.
  8. Vohra S, Dhaliwal HS. Miliary Tuberculosis. [Updated 2024 Jan 30]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK562300/ Accessed Nov 18, 2024.
  9. Maloney ME, Cohen B. Cutaneous tuberculosis in the pediatric population: A review. JAAD Int. 2023 May 17;12:105-111. doi: 10.1016/j.jdin.2023.05.001. PMID: 37404246; PMCID: PMC10315778.
  10. Yap J. Tuberculous arthropathy. Standard therapies. Radiopaedia. February 6, 2023. https://radiopaedia.org/articles/tuberculous-arthropathy-1?lang=us Accessed Nov 18, 2024.
  11. Amit Chopra A & Huggins JT. Tuberculous pleural effusion. UpToDate. Apr 30, 2024. https://www.uptodate.com/contents/tuberculous-pleural-effusion Accessed Nov 18, 2024.
  12. Tobin EH, Roddy K, Jha SK, et al. Genitourinary Tuberculosis. [Updated 2024 Aug 16]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK557558/ Accessed Nov 18, 2024.
  13. Vaid U.Kane GC.  Tuberculous Peritonitis. Microbiol Spectr. 2017; 5:10.1128/microbiolspec.tnmi7-0006-2016. https://doi.org/10.1128/microbiolspec.tnmi7-0006-2016
  14. Lucero OD, Bustos MM, Ariza Rodríguez DJ, Perez JC. Tuberculous pericarditis-a silent and challenging disease: A case report. World J Clin Cases. 2022 Feb 26;10(6):1869-1875. doi: 10.12998/wjcc.v10.i6.1869. PMID: 35317150; PMCID: PMC8891785.
  15. Lanzafame M, Vento S. Mini-review: Silico-tuberculosis. J Clin Tuberc Other Mycobact Dis. 2021 Feb 2;23:100218. doi: 10.1016/j.jctube.2021.100218. PMID: 33598569; PMCID: PMC7868994.
  16. Clinical Overview of Drug-Resistant Tuberculosis Disease. Centers for Disease Control and Prevention. Oct 31, 2024. https://www.cdc.gov/tb/hcp/clinical-overview/drug-resistant-tuberculosis-disease.html Accessed Nov 18, 2024.
  17. Tuberculosis in Children. Centers for Disease Control and Prevention (CDC). Oct 30, 2024. https://www.cdc.gov/tb/about/children.html Accessed Nov 18, 2024.
  18. Riojas MA, McGough KJ, Rider-Riojas CJ, Rastogi N, Hazbón MH. Phylogenomic analysis of the species of the Mycobacterium tuberculosis complex demonstrates that Mycobacterium africanum, Mycobacterium bovis, Mycobacterium caprae, Mycobacterium microti and Mycobacterium pinnipedii are later heterotypic synonyms of Mycobacterium tuberculosis. Int J Syst Evol Microbiol. 2018 Jan;68(1):324-332. doi: 10.1099/ijsem.0.002507.
  19. Morbidity and Mortality Weekly Report (MMWR) Search Tuberculosis — United States, 2023. World Health Organization (WHO). March 28, 2024. https://www.cdc.gov/mmwr/volumes/73/wr/mm7312a4.htm Accessed Nov 18, 2024.
  20. Tuberculosis. World Health Organization (WHO). 29 October 2024. https://www.who.int/news-room/fact-sheets/detail/tuberculosis Accessed Nov 18, 2024.
  21. Yelk Woodruff RS, Pratt RH, Armstrong LR. The US National Tuberculosis Surveillance System: A Descriptive Assessment of the Completeness and Consistency of Data Reported from 2008 to 2012. JMIR Public Health Surveill. 2015 Oct 15;1(2):e15. doi: 10.2196/publichealth.4991. PMID: 27227133; PMCID: PMC4869229.
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Programs & Resources

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RareCare® Assistance Programs

NORD strives to open new assistance programs as funding allows. If we don’t have a program for you now, please continue to check back with us.

Additional Assistance Programs

MedicAlert Assistance Program

NORD and MedicAlert Foundation have teamed up on a new program to provide protection to rare disease patients in emergency situations.

Learn more https://rarediseases.org/patient-assistance-programs/medicalert-assistance-program/

Rare Disease Educational Support Program

Ensuring that patients and caregivers are armed with the tools they need to live their best lives while managing their rare condition is a vital part of NORD’s mission.

Learn more https://rarediseases.org/patient-assistance-programs/rare-disease-educational-support/

Rare Caregiver Respite Program

This first-of-its-kind assistance program is designed for caregivers of a child or adult diagnosed with a rare disorder.

Learn more https://rarediseases.org/patient-assistance-programs/caregiver-respite/

Patient Organizations


More Information

The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.

GARD Disease Summary

The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).

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Orphanet

Orphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.

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