Subacute Sclerosing Panencephalitis (SSPE)

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Disease Ontology 12 DOID:8970 OMIM 56 260470 KEGG 36 H01696 ICD9CM 34 046.2 MeSH 43 D013344 NCIt 49 C85171 SNOMED-CT 67 84196008 ICD10 32 A81.1

ICD10 via Orphanet 33 A81.1 UMLS via Orphanet 72 C0038522 Orphanet 58 ORPHA2806 MedGen 41 C0038522 SNOMED-CT via HPO 68 258211005 45170000 EFO 17 EFO_0007502 UMLS 71 C0038522

NINDS : ⁵³ Subacute sclerosing panencephalitis (SSPE) is a progressive neurological disorder of children and young adults that affects the central nervous system (CNS). It is a slow, but persistent, viral infection caused by defective measles virus. SSPE has been reported from all parts of the world, but it is considered a rare disease in developed countries, with fewer than 10 cases per year reported in the United States. The incidence of SSPE declined by at least 90 percent in countries that have practiced widespread immunization with measles vaccine. The incidence of SSPE is still high in developing countries such as India and Eastern Europe. There is a higher incidence among males than females (male/female: 3/1). Most youngsters with SSPE have a history of measles infection at an early age, usually younger than 2 years, followed by a latent period of 6 to 8 years before neurological symptoms begin. Despite the long interval between the measles infection and the onset of SSPE, researchers think that the infection of the brain occurs soon after the primary bout with measles and progresses slowly. Why it persists and progresses still isn't clear. The initial symptoms of SSPE are subtle and include mild mental deterioration (such as memory loss) and changes in behavior (such as irritability) followed by disturbances in motor function, including uncontrollable involuntary jerking movements of the head, trunk or limbs called myoclonic jerks. Seizures may also occur. Some people may become blind. In advanced stages of the disease, individuals may lose the ability to walk, as their muscles stiffen or spasm. There is progressive deterioration to a comatose state, and then to a persistent vegetative state. Death is usually the result of fever, heart failure, or the brain's inability to continue controlling the autonomic nervous system.

MalaCards based summary : Subacute Sclerosing Panencephalitis, also known as sspe, is related to acute disseminated encephalomyelitis and chorioretinitis. An important gene associated with Subacute Sclerosing Panencephalitis is CD46 (CD46 Molecule), and among its related pathways/superpathways are Innate Immune System and TGF-Beta Pathway. Affiliated tissues include brain, heart and t cells, and related phenotypes are encephalitis and hematopoietic system

Disease Ontology : ¹² A viral infectious disease that results in infection located in brain and that has material basis in Measles virus which is immune resistant.

NIH Rare Diseases : ⁵² 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 . 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. 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.

OMIM : ⁵⁶ Subacute sclerosing panencephalitis (SSPE) is a fatal neurodegenerative disease caused by persistent central nervous system infection with the measles virus (summary by Torisu et al., 2004). (260470)

KEGG : ³⁶ Subacute sclerosing panencephalitis (SSPE) is a progressive, fatal neurologic disorder of childhood and early adolescence. It is caused by a persistent infection of the brain by an aberrant measles virus. Signs attributable to subacute sclerosing panencephalitis usually develop 4-8 years after the onset of measles infection. It is not precisely known how the measles virus remains dormant for so many years and why it becomes active again. More recent data indicate that it can follow acute measles infection in 1:10,000 cases. The incidence of SSPE is inversely related to measles vaccination coverage. In the developed world, the prevalence of SSPE has steadily declined since the introduction of the measles virus vaccine. The characteristic clinical manifestations of SSPE include behavioral abnormalities, cognitive decline, myoclonic jerks, seizures and abnormalities in vision. Clinical manifestations of SSPE usually start with subtle intellectual deterioration of the affected child causing deterioration in school performance. One of the most characteristic manifestations of SSPE is periodic myoclonic jerks that often leads to difficulty in walking and repeated falls. In the terminal stages of the disease, decerebrate and decorticate rigidity appear. Ultimately the patient becomes vegetative. Management of the disease includes seizure control and avoidance of secondary complications associated with the progressive disability. Treatment with interferon, ribavirin, and isoprinosine have reported beneficial results. However, there is no definitively effective treatment for SSPE.

Wikipedia : ⁷⁴ Subacute sclerosing panencephalitis (SSPE)-also known as Dawson disease-is a rare form of chronic... more...

Clinical features from OMIM:

260470

Search Clinical Trials , NIH Clinical Center for Subacute Sclerosing Panencephalitis

Search GEO for disease gene expression data for Subacute Sclerosing Panencephalitis.