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Questions about rare diseases?

Disease at a Glance

Summary
Pure autonomic failure (PAF) is a neurodegenerative disease of the autonomic nervous system, which regulates body processes like blood pressure and breathing rate. PAF usually affects only the peripheral autonomic nervous system, which means it does not usually involve the brain and spinal cord (the central nervous system). Symptoms begin in midlife, although they can begin earlier. The main symptom of PAF is orthostatic hypotension, a sudden drop in blood pressure upon standing. This can cause dizziness, lightheadedness, blurry vision, and weakness. Other symptoms can include fatigue, bladder problems, constipation, abnormal sweating, and sleep disorders. The symptoms of PAF tend to get worse over time, and sometimes, PAF can lead to other conditions such as Parkinson's disease, dementia with Lewy bodies, or multiple system atrophy. The cause of PAF is not known. The symptoms are caused by abnormal accumulations of protein, called Lewy bodies, in the cells of autonomic nerves. The Lewy bodies restrict the production and release of norepinephrine from nerve cells, which in turn causes hypotension. Diagnosis of PAF is based on the symptoms, clinical examination, and a thorough neurological examination. Testing may involve tilt table testing, 24-hour blood pressure monitoring, hyperventilation testing, and a norepinephrine blood test.
Summary
Pure autonomic failure (PAF) is a neurodegenerative disease of the autonomic nervous system, which regulates body processes like blood pressure and breathing rate. PAF usually affects only the peripheral autonomic nervous system, which means it does not usually involve the brain and spinal cord (the central nervous system). Symptoms begin in midlife, although they can begin earlier. The main symptom of PAF is orthostatic hypotension, a sudden drop in blood pressure upon standing. This can cause dizziness, lightheadedness, blurry vision, and weakness. Other symptoms can include fatigue, bladder problems, constipation, abnormal sweating, and sleep disorders. The symptoms of PAF tend to get worse over time, and sometimes, PAF can lead to other conditions such as Parkinson's disease, dementia with Lewy bodies, or multiple system atrophy. The cause of PAF is not known. The symptoms are caused by abnormal accumulations of protein, called Lewy bodies, in the cells of autonomic nerves. The Lewy bodies restrict the production and release of norepinephrine from nerve cells, which in turn causes hypotension. Diagnosis of PAF is based on the symptoms, clinical examination, and a thorough neurological examination. Testing may involve tilt table testing, 24-hour blood pressure monitoring, hyperventilation testing, and a norepinephrine blood test.
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Resource(s) for Medical Professionals and Scientists on This Disease:

About Pure autonomic failure

Many rare diseases have limited information. Currently, GARD aims to provide the following information for this disease:

  • Population Estimate:Fewer than 5,000 people in the U.S. have thisdisease.
  • Symptoms:May start to appear as an Adult and as an Older Adult.
  • Cause:GARD does not currently have information about the cause of this disease.
  • Organizations:Patient organizations are available to help find a specialist, or advocacy and support for this specific disease.
  • Categories:Neurological Diseases
When Do Symptoms of Pure autonomic failure Begin?
Symptoms of this disease may start to appear as an Adult and as an Older Adult.

The age symptoms may begin to appear differs between diseases. Symptoms may begin in a single age range, or during several age ranges. The symptoms of some diseases may begin at any age. Knowing when symptoms may have appeared can help medical providers find the correct diagnosis.
Prenatal
Before Birth
Newborn
Birth-4 weeks
Infant
1-23 months
Child
2-11 years
Adolescent
12-18 years
Adult Selected
19-65 years
Older Adult Selected
65+ years
Symptoms may start to appear as an Adult and as an Older Adult.

Symptoms

The types of symptoms experienced, and their intensity, may vary among people with this disease. Your experience may be different from others. Consult your health care team for more information.

The following describes the symptom(s) associated with this disease along with the corresponding body system(s), description, synonyms, and frequency (Note: Not all possible symptoms may be listed):
Nervous System Nervous System

10 Symptoms

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Body Systems

Symptoms related to this disease may affect different systems of the body. Use the 'Filter and Sort' function to learn more about which body system(s) are affected by this disease and their associated symptom(s).

Causes

This section is currently in development. 

Find Your Community

How Can Patient Organizations Help?

Patient organizations can help patients and families connect. They build public awareness of the disease and are a driving force behind research to improve patients' lives. They may offer online and in-person resources to help people live well with their disease. Many collaborate with medical experts and researchers.

Services of patient organizations differ, but may include:

  • Ways to connect to others and share personal stories
  • Easy-to-read information
  • Up-to-date treatment and research information
  • Patient registries
  • Lists of specialists or specialty centers
  • Financial aid and travel resources

Please note: GARD provides organizations for informational purposes only and not as an endorsement of their services. Please contact an organization directly if you have questions about the information or resources it provides.

View GARD's criteria for including patient organizations, which can be found under the FAQs on our About page.

Patient Organizations

6 Organizations

Organization Name

Who They Serve

Helpful Links

Country

People With

Pure Autonomic Failure

Helpful Links
Country

United States

People With

Pure Autonomic Failure

Helpful Links
Country

United States

People With

Rare Diseases

Helpful Links
Country

United States

People With

Rare Diseases

Helpful Links
Country

United States

People With

Rare Diseases

Helpful Links
Country

United States

People With

Rare Diseases

Helpful Links
Country

United States

Participating in Clinical Studies

Clinical studies are part of clinical research and play an important role in medical advances, including for rare diseases. Through clinical studies, researchers may ultimately uncover better ways to treat, prevent, diagnose, and understand human diseases.

What Are Clinical Studies?

  1. Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments.
  2. Observational studies involve recording changes over time among a specific group of people in their natural settings.
Learn more about clinical trials from this U.S. Food & Drug Administration webpage.

Why Participate in Clinical Studies?

What if There Are No Available Clinical Studies?

Join the All of Us Research Program!

What Are Clinical Studies?

Clinical studies are medical research involving people as participants. There are two main types of clinical studies:
  1. Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments.
  2. Observational studies involve recording changes over time among a specific group of people in their natural settings.
Learn more about clinical trials from this U.S. Food & Drug Administration webpage.
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Why Participate in Clinical Studies?

People participate in clinical trials for many reasons. People with a disease may participate to receive the newest possible treatment and additional care from clinical study staff as well as to help others living with the same or similar disease. Healthy volunteers may participate to help others and to contribute to moving science forward.

To find the right clinical study we recommend you consult your doctors, other trusted medical professionals, and patient organizations. Additionally, you can use ClinicalTrials.gov to search for clinical studies by disease, terms, or location.
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What if There Are No Available Clinical Studies?

Join the All of Us Research Program!

ClinicalTrials.gov, an affiliate of NIH, provides current information on clinical research studies in the United States and abroad. Talk to a trusted doctor before choosing to participate in any clinical study. We recommend checking this site often and searching for studies with related terms/synonyms to improve results.
Contact a GARD Information Specialist if you need help finding more information on this rare disease or available clinical studies. Please note that GARD cannot enroll individuals in clinical studies. 
Available toll-free Monday through Friday from 12 pm to 6 pm Eastern Time
(Except: Federal Holidays)
Use the contact form to send your questions to a GARD Information Specialist.

Please allow 2 to 10 business days for us to respond.
ClinicalTrials.gov, an affiliate of NIH, provides current information on clinical research studies in the United States and abroad. Talk to a trusted doctor before choosing to participate in any clinical study. We recommend checking this site often and searching for studies with related terms/synonyms to improve results.
Contact a GARD Information Specialist if you need help finding more information on this rare disease or available clinical studies. Please note that GARD cannot enroll individuals in clinical studies. 
Available toll-free Monday through Friday from 12 pm to 6 pm Eastern Time
(Except: Federal Holidays)
Use the contact form to send your questions to a GARD Information Specialist.

Please allow 2 to 10 business days for us to respond.
Getting a Diagnosis

Take steps toward getting a diagnosis by working with your doctor, finding the right specialists, and coordinating medical care.

Last Updated: February 2024