{"Name":"HTLV-1-associated myelopathy-tropical spastic paraparesis","DiseaseID__c":"GARD:0008208","id":8208,"encodedName":"htlv-1-associated-myelopathy-tropical-spastic-paraparesis","IsDeleted":false,"Disease_Name_Full__c":"HTLV-1-associated myelopathy-tropical spastic paraparesis","Xref_IDs__c":"714279000; C0030481; C179058; D015493; DOID:321; G04.1; MEDGEN:18298; MONDO:0008039; OMIM:159580; ORPHA:289326","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0008039","Disease_Description__c":"Tropical spastic paraparesis is a chronic systemic immune-mediated inflammatory myeloneuropathy, more frequently reported in women than in men, that usually presents in adulthood with slowly progressive spastic paraparesis of the lower limbs, bladder and bowel dysfunction, and sensory disturbances in the lower extremities (e.g. paresthesia and dysesthesia) and that is associated with a human T-cell lymphotropic virus type 1 (HTLV-1) infection.","GARD_Name__c":"HTLV-1-associated myelopathy-tropical spastic paraparesis","GARD_Synonym__c":"familial spastic paraparesis, htlv-1-associated; ham; ham/tsp; htlv-1-associated myelopathy/tropical spastic paraparesis; htlv-associated myelopathy; htlv-i-associated myelopathy; human t-cell leukemia virus type 1 associated myelopathy/tropical spastic paraparesis; human t-cell lymphotropic virus 1-associated myelopathy; human t-lymphotropic virus type i-associated myelopathy/tropical spastic paraparesis; human t-lymphotropic virus type-1-associated myelopathy/tropical spastic paraparesis; myelopathy caused by human t-lymphotropic virus 1; myelopathy, htlv-1-associated; paraparesis, tropical spastic; tropical spastic paralysis; tropical spastic paraparesis; tropical spastic paraparesis (formerly); tropical spastic paraplegia; tsp","Curated_Disease_Description_Source__c":"GARD:0008208","Curated_Disease_Description__c":"HTLV-1 associated myelopathy/tropical spastic paraparesis (HAM/TSP) is a progressive disease of the nervous system that affects less than 2% of people with HTLV-1 infection. Signs and symptoms vary but may include slowly progressive weakness and spasticity of one or both legs, exaggerated reflexes, muscle contractions in the ankle, and lower back pain. Other features may include urinary incontinence and minor sensory changes, especially burning or prickling sensations and loss of vibration sense. The reason some people with HTLV-1 infection develop HAM/TSTP is not well understood.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:289326","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008039","ORPHANET_ID__c":"ORPHA:289326","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Paraparesia espástica tropical","Spanish_Description_Source__c":"ORPHA:289326","Spanish_Description__c":"Es una mieloneuropatía sistémica crónica inflamatoria mediada por el sistema inmunitario, más frecuente en mujeres que en hombres. Por lo general, se presenta en la edad adulta con paraparesia espástica de progresión lenta acompañada de trastornos sensitivos (p. ej., parestesia y disestesia) en las extremidades inferiores y disfunción vesical e intestinal. Este trastorno está asociado a la infección por el virus linfotrópico de células T humanas tipo 1 (HTLV-1).","Spanish_Disease_Name__c":"paraparesia espástica tropical","Spanish_GARD_Synonym__c":"ham/tsp; paraparesia espástica tropical/mielopatía asociada al htlv-1; paraparesia espástica tropical/mielopatía asociada al virus linfotrópico de células t humanas tipo 1; paraparesia espástica tropical/mielopatía asociada al virus linfotrópico de células t humanas tipo i; tsp","Category_Linearization__c":"ORPHA:68416","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"HTLV-1 associated myelopathy/tropical spastic paraparesis (HAM/TSP) is a progressive disease of the nervous system that affects less than 2% of people with HTLV-1 infection. Signs and symptoms vary but may include slowly progressive weakness and spasticity of one or both legs, exaggerated reflexes, muscle contractions in the ankle, and lower back pain. Other features may include urinary incontinence and minor sensory changes, especially burning or prickling sensations and loss of vibration sense. The reason some people with HTLV-1 infection develop HAM/TSTP is not well understood.","Curated_Disease_Description_Source__c":"GARD:0008208","GARD_Synonym__c":"familial spastic paraparesis, htlv-1-associated; ham; ham/tsp; htlv-1-associated myelopathy/tropical spastic paraparesis; htlv-associated myelopathy; htlv-i-associated myelopathy; human t-cell leukemia virus type 1 associated myelopathy/tropical spastic paraparesis; human t-cell lymphotropic virus 1-associated myelopathy; human t-lymphotropic virus type i-associated myelopathy/tropical spastic paraparesis; human t-lymphotropic virus type-1-associated myelopathy/tropical spastic paraparesis; myelopathy caused by human t-lymphotropic virus 1; myelopathy, htlv-1-associated; paraparesis, tropical spastic; tropical spastic paralysis; tropical spastic paraparesis; tropical spastic paraparesis (formerly); tropical spastic paraplegia; tsp","Name":"HTLV-1-associated myelopathy-tropical spastic paraparesis","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"National Multiple Sclerosis Society","Website__c":"https://www.nationalmssociety.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Infectious Disease","Tag_Category__c":"Disease Category;Specialist","category_description":"Infectious diseases are caused by bacteria, viruses, fungi, or parasites entering the body, multiplying, and spreading illness.","curated_tag_name":"Infectious diseases"},{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Rare Viral Disease","Tag_Category__c":"Cause","curated_tag_name":"Viral Infectious Diseases"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:289326"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/159580","Source__c":"C0030481; MONDO:0008039; ORPHA:289326","Xref__c":"OMIM:159580"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=714279000","Source__c":"C0030481; MONDO:0008039","Xref__c":"714279000"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A321","Source__c":"MONDO:0008039","Xref__c":"DOID:321"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C015493","Source__c":"C0030481; MONDO:0008039","Xref__c":"D015493"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0030481","Source__c":"C0030481","Xref__c":"C0030481"},{"URL__c":"https://www.orpha.net/en/disease/detail/289326","Source__c":"C0030481; MONDO:0008039; ORPHA:289326","Xref__c":"ORPHA:289326"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=18298","Source__c":"C0030481","Xref__c":"MEDGEN:18298"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/G04.1","Source__c":"MONDO:0008039","Xref__c":"G04.1"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008039","Source__c":"GARD:0008208","Xref__c":"MONDO:0008039"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C179058","Source__c":"C0030481","Xref__c":"C179058"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:159580","Feature__r":{"HPO_Description__c":"Functional neurological abnormalities related to dysfunction of the pyramidal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007256","HPO_Synonym__c":"Corticospinal signs; Pyramidal signs; Pyramidal tract signs","HPO_Name__c":"Abnormal pyramidal sign","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:159580","Feature__r":{"HPO_Description__c":"Myelopathy is an descriptive term, referring to pathology leading to a neurologic deficit related to the spinal cord. The clinical diagnosis of myelopathy requires a detailed history and physical examination to define the clinical syndrome. Neuroimaging is indicated in most instances of new-onset myelopathy. It is indicated also when the worsening of a myelopathy is unexplained.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002196","HPO_Name__c":"Myelopathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:159580","Feature__r":{"HPO_Description__c":"Partial loss of the ability to move the lower limbs accompanied by spasticity of the lower limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002313","HPO_Name__c":"Spastic paraparesis","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Infectious Disease","Neurology"],"Specialist":["Infectious Disease","Neurology"],"Cause":["Rare Viral Disease"]},"synonyms":["familial spastic paraparesis, htlv-1-associated"," ham"," ham/tsp"," htlv-1-associated myelopathy/tropical spastic paraparesis"," htlv-associated myelopathy"," htlv-i-associated myelopathy"," human t-cell leukemia virus type 1 associated myelopathy/tropical spastic paraparesis"," human t-cell lymphotropic virus 1-associated myelopathy"," human t-lymphotropic virus type i-associated myelopathy/tropical spastic paraparesis"," human t-lymphotropic virus type-1-associated myelopathy/tropical spastic paraparesis"," myelopathy caused by human t-lymphotropic virus 1"," myelopathy, htlv-1-associated"," paraparesis, tropical spastic"," tropical spastic paralysis"," tropical spastic paraparesis"," tropical spastic paraparesis (formerly)"," tropical spastic paraplegia"," tsp"],"spanishId":13426,"spanishName":"paraparesia-espastica-tropical"}