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Disease Profile

Subacute sclerosing panencephalitis

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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

All ages

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ICD-10

A81.1

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)

SSPE; Dawson disease; Dawson Encephalitis

Categories

Nervous System Diseases

Summary

Subacute sclerosing panencephalitis (SSPE) a rare condition that is caused by a measles infection acquired earlier in life. Signs and symptoms of the condition primarily affect the central nervous system and often develop approximately 7 to 10 years after a person recovers from the measles. Affected people may initially experience behavioral changes, dementia, and disturbances in motor function. In the late stages of the disease, affected people often progress to a comatose state, and then to a persistent vegetative state. Ultimately, many people with SSPE succumb to fever, heart failure, or the brain's inability to continue controlling the autonomic nervous system.[1][2] It is unclear why some people develop SSPE after they have seemingly recovered from the measles while others do not. Researchers suspect that SSPE may be due to an abnormal immune response or a mutant form of the measles virus that causes a persistent infection within the central nervous system.[1][2][3] Treatment is supportive and primarily based on the signs and symptoms present in each person. Recent studies have shown that certain medications (called antiviral and immunomodulatory drugs) may slow the progression of the condition, although the best treatment regimen and their long-term effects in people with SSPE are currently unknown.[2][4]

Symptoms

Subacute sclerosing panencephalitis (SSPE) generally develops approximately seven to ten years after a person recovers from the measles. Early signs and symptoms of the condition can include behavioral changes and mild mental deterioration (affecting memory, thinking, language, and judgment). As the condition progresses, affected people may experience disturbances in motor function, such as an unsteady gait (style of walking) and myoclonic jerks (uncontrollable involuntary jerking movements of the head, trunk, or limbs). Some affected people may also become blind and/or develop seizures. The muscles of the leg can be very tense or lack tone, and some affected people experiencing weakness and spasms in both legs. Because this can interfere with the ability to walk, people with SSPE may require devices to assist with mobility. In the late stages of the disease, affected people often progress to a comatose state, and then to a persistent vegetative state. Ultimately, many people with SSPE succumb to fever, heart failure, or the brain's inability to continue controlling the autonomic nervous system.[1][2]

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance
0000007
Encephalitis
Brain inflammation
0002383

Cause

Subacute sclerosing panencephalitis (SSPE) is caused by a measles infection that is acquired earlier in life (often 7-10 years prior to the onset of SSPE symptoms). It is unclear why some people develop SSPE after they have seemingly recovered from the measles while others do not. Researchers suspect that SSPE may be due to an abnormal immune response or a mutant form of the measles virus that causes a persistent infection within the central nervous system (brain and spinal cord).[1][2][3]

Although the underlying cause of SSPE is poorly understood, several risk factors appear to be associated with the condition. SSPE affects males more often than females and is generally diagnosed in children and adolescents. The risk of developing SSPE may be higher for a person who gets measles before they are two years of age.[1][5]

Diagnosis

A diagnosis of subacute sclerosing panencephalitis is often suspected based on the presence of characteristic signs and symptoms in a person with a history of the measles. Additional testing can then be offered to confirm the diagnosis. This may include:[1][3]

  • Electroencephalogram (EEG)
  • Imaging studies, such as MRI or CT scan
  • Serum antibody titer to look for signs of previous measles infection
  • Spinal tap

Treatment

Unfortunately, there is currently no cure for subacute sclerosing panencephalitis (SSPE). Treatment is supportive and primarily based on the signs and symptoms present in each person. For example, anticonvulsant and antispasmodic drugs may be given, as needed, to address some of the motor disturbances associated with the condition.[2][4]

Recent studies have shown that certain medications (called antiviral and immunomodulatory drugs) may slow the progression of the condition when given alone or in combination. Although these drugs can prolong life, the best treatment regimen and their long-term effects in people with SSPE are currently unknown.[2][4]

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

    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

    • You can obtain information on this topic from the Centers for Disease Control and Prevention (CDC). The CDC is recognized as the lead federal agency for developing and applying disease prevention and control, environmental health, and health promotion and education activities designed to improve the health of the people of the United States.
    • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
    • The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers.
    • The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
    • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

      In-Depth Information

      • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
      • MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
      • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
      • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
      • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
      • PubMed is a searchable database of medical literature and lists journal articles that discuss Subacute sclerosing panencephalitis. Click on the link to view a sample search on this topic.

        References

        1. Subacute sclerosing panencephalitis. MedlinePlus. September 2014; https://www.nlm.nih.gov/medlineplus/ency/article/001419.htm.
        2. NINDS Subacute Sclerosing Panencephalitis Information Page. National Institute of Neurological Disorders and Stroke. February 2016; https://www.ninds.nih.gov/Disorders/All-Disorders/Subacute-Sclerosing-Panencephalitis-Information-Page.
        3. Hayley Gans, MD; Yvonne A Maldonado, MD. Clinical manifestations and diagnosis of measles. UpToDate. February 2016;
        4. Häusler M, Aksoy A, Alber M, Altunbasak S, Angay A, Arsene OT, Craiu D, Hartmann H, Hiz-Kurul S, Ichiyama T, Iliescu C, Jocic-Jakubi B, Korinthenberg R, Köse G, Lukban MB, Ozkan M, Patcheva I, Teichler J, Vintan M, Yaramis A, Yarar C, Yis U, Yuksel D, Anlar B. A Multinational Survey on Actual Diagnostics and Treatment of Subacute Sclerosing Panencephalitis. Neuropediatrics. December 2015; 46(6):377-384. https://www.ncbi.nlm.nih.gov/pubmed/?term=26479761.
        5. Complications of Measles. Centers for Disease Control and Prevention. February 2015; https://www.cdc.gov/measles/about/complications.html.

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