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Disease Profile

Autoimmune autonomic ganglionopathy

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

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ICD-10

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Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Autoimmune Autonomic Neuropathy

Summary

Autoimmune autonomic ganglionopathy (AAG) is a condition in which the body's immune system mistakenly attacks and damages certain parts of the autonomic nervous system. AAG may be divided into two different types based on the presence of specific types of cells in the blood that normally fight infection (antibodies). Signs and symptoms of AAG usually begin in adulthood and are different from person to person. Symptoms may include severe orthostatic hypotension (low blood pressure upon standing), fainting, constipation, fixed and dilated pupils, urinary retention, and dry mouth and eyes. The underlying cause of AAG is poorly understood. Diagnosis is based on the symptoms, clinical exam, and specialized laboratory tests. Treatment depends on many factors including the severity of the condition and the signs and symptoms present in each person. Due to the rarity of AAG, there is no standard treatment. Treatment options include plasmapheresis, intravenous (IV) immunoglobulin, corticosteroids, or immunosuppressive drugs. Approximately one third of people with AAG get better without treatment, but the recovery is often incomplete.[1][2][3]

Symptoms

The symptoms of autoimmune autonomic ganglionopathy can include:[4][5]

  • Severe orthostatic hypotension (low blood pressure upon standing) that persists for weeks to years
  • Fainting
  • Constipation and gastrointestinal dysmotility (a condition in which the muscles and nerves of the digestive system do not move food through the digestive tract efficiently)
  • Urinary retention
  • Fixed and dilated pupils
  • Dry mouth and eyes

Some people with autoimmune autonomic ganglionopathy present with POTS-like symptoms.[5]

Cause

The cause of autoimmune autonomic ganglionopathy is not fully understood.[4] An autoimmune component is presumed, as the body's own immune system damages a receptor in the autonomic ganglia (part of the peripheral autonomic nerve fiber). In one to two-thirds of affected individuals, this condition is associated with high titers of ganglionic acetylcholine receptor antibody (g-AchR antibody).[5][6]. About 60% of cases follow an infection or other illness.[6]

Treatment

Treatment for autoimmune autonomic ganglionopathy (AAG) is focused on managing the symptoms. Because AAG is so rare, there is no standard treatment. Experts familiar with this condition often use plasma exchange or total plasmapheresis, intravenous immunoglobulin (IVIG), IV corticosteroids, or immunosuppressive drugs, such as Rituxan to treat the symptoms of the disease. Some people with AAG require a combination of treatments to get better.[1][2][3]

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Organizations Providing General Support

      Learn more

      These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

      Where to Start

      • Dysautonomia International offers an information page on Autoimmune autonomic ganglionopathy. Please click on the link to access this resource.
      • The Autonomic Disorders Consortium has information about Autoimmune autonomic ganglionopathy for patients and their families. This research consortium is funded by the National Institutes of Health.

        In-Depth Information

        • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
        • PubMed is a searchable database of medical literature and lists journal articles that discuss Autoimmune autonomic ganglionopathy. Click on the link to view a sample search on this topic.

          References

          1. Golden EP, Vernino S. Autoimmune autonomic neuropathies and ganglionopathies: epidemiology, pathophysiology, and therapeutic advances.. Clin Auton Res. Jun 2019; 29(3):277-288. https://pubmed.ncbi.nlm.nih.gov/31093868/.
          2. Nakane S, Mukaino A, Higuchi O, Watari M, Maeda Y, Yamakawa M, et al. Autoimmune autonomic ganglionopathy: an update on diagnosis and treatment. Expert Rev Neurother.. Dec 2018; 18(12):953-965. https://pubmed.ncbi.nlm.nih.gov/30352532/.
          3. Bouxin M, Schvartz B, Mestrallet S, Debrumetz A, Hentzien M, Tabary T, et al. Rituximab treatment in seronegative autoimmune autonomic neuropathy and autoimmune autonomic ganglionopathy: Case-report and literature review. J Neuroimmunol. Jan 15, 2019; 326:28-32. https://pubmed.ncbi.nlm.nih.gov/30468952/.
          4. Autoimmune Autonomic Ganglionopathy. Autonomic Disorders Consortium. https://www.rarediseasesnetwork.org/ARDCRC/patients/learnmore/AAG/. Accessed 9/2/2015.
          5. Autoimmune Autonomic Ganglionopathy Summary. Dysautonomia International. https://www.dysautonomiainternational.org/page.php?ID=124. Accessed 9/2/2015.
          6. Mohini Gurme, MD. Idiopathic Orthostatic Hypotension and other Autonomic Failure Syndromes. Medscape Reference. March 2014; https://emedicine.medscape.com/article/1154266-overview. Accessed 9/2/2015.

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