{"Name":"Hereditary spastic paraplegia","DiseaseID__c":"GARD:0006637","id":6637,"encodedName":"hereditary-spastic-paraplegia","IsDeleted":false,"Disease_Name_Full__c":"Hereditary spastic paraplegia","Xref_IDs__c":"39912006; C0037773; C140267; D015419; DOID:2476; G11.4; MEDGEN:20844; MONDO:0019064; OMIMPS:303350; ORPHA:685","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0019064","Disease_Description__c":"A genetically and clinically heterogeneous group of slowly progressive neurological disorders which in the pure form is characterized by pyramidal signs (weakness, spasticity, brisk tendon reflexes, and extensor plantar responses) predominantly affecting the lower limbs and with possible association of sphincter disturbances and deep sensory loss; and in the complex form by the addition of variable neurological or non-neurological features.","GARD_Name__c":"Hereditary spastic paraplegia","GARD_Synonym__c":"familial spastic paraparesis; familial spastic paraplegia; familial spastic paraplegia syndrome; french settlement disease; hereditary spastic paraparesis; hsp; hsp - hereditary spastic paraplegia; spastic congenital paraplegia; spg; strumpell-lorrain disease; strümpell-lorrain disease","Curated_Disease_Description_Source__c":"GARD:0006637","Curated_Disease_Description__c":"Hereditary spastic paraplegia (HSP) is a group of hereditary, degenerative, neurological disorders that primarily affect the upper motor neurons. Upper motor neurons in the brain and spinal cord deliver signals to the lower motor neurons, which in turn, carry messages to the muscles. In Hereditary spastic paraplegia, upper motor neurons slowly degenerate so the muscles do not receive the correct messages, causing progressive spasticity (increased muscle tone/stiffness) and weakness of the legs. This leads to difficulty walking. If only the lower body is affected, HSP is classified as uncomplicated or pure. HSP is classified as complicated or complex if other systems are involved. In these cases, additional symptoms, including impaired vision, ataxia, epilepsy, cognitive impairment, peripheral neuropathy, and/or deafness, occur. The different forms of HSP are caused by genetic changes in different genes. Inheritance varies.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:685","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0019064","ORPHANET_ID__c":"ORPHA:685","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Paraplejía espástica hereditaria","Spanish_Description_Source__c":"ORPHA:685","Spanish_Description__c":"Es un grupo genético y clínicamente heterogéneo de trastornos neurológicos lentamente progresivos caracterizado, en su forma pura, por signos piramidales (debilidad, espasticidad, reflejos tendinosos vivos y respuestas plantares extensoras) que afectan predominantemente a las extremidades inferiores y con una posible asociación con alteraciones esfinterianas y déficit sensitivo profundo. En su forma compleja, se manifiesta con hallazgos adicionales variables de características neurológicas o no neurológicas.","Spanish_Disease_Name__c":"paraplejía espástica hereditaria","Spanish_GARD_Synonym__c":"enfermedad de strümpell-lorrain; hsp; paraplejía espástica familiar; spg","Category_Linearization__c":"ORPHA:98006","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":"Hereditary spastic paraplegia (HSP) is a group of hereditary, degenerative, neurological disorders that primarily affect the upper motor neurons. Upper motor neurons in the brain and spinal cord deliver signals to the lower motor neurons, which in turn, carry messages to the muscles. In Hereditary spastic paraplegia, upper motor neurons slowly degenerate so the muscles do not receive the correct messages, causing progressive spasticity (increased muscle tone/stiffness) and weakness of the legs. This leads to difficulty walking. If only the lower body is affected, HSP is classified as uncomplicated or pure. HSP is classified as complicated or complex if other systems are involved. In these cases, additional symptoms, including impaired vision, ataxia, epilepsy, cognitive impairment, peripheral neuropathy, and/or deafness, occur. The different forms of HSP are caused by genetic changes in different genes. Inheritance varies.","Curated_Disease_Description_Source__c":"GARD:0006637","GARD_Synonym__c":"familial spastic paraparesis; familial spastic paraplegia; familial spastic paraplegia syndrome; french settlement disease; hereditary spastic paraparesis; hsp; hsp - hereditary spastic paraplegia; spastic congenital paraplegia; spg; strumpell-lorrain disease; strümpell-lorrain disease","Name":"Hereditary spastic paraplegia","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Lilly and Blair Foundation","Website__c":"https://www.lillyandblair.org/"},{"Account_Name__c":"CureAP4 Foundation","Website__c":"https://cureap4.org/"},{"Account_Name__c":"The Maddi Foundation","Website__c":"https://themaddifoundation.com/"},{"Account_Name__c":"Warburg Micro Research Foundation","Website__c":"https://warburgmicro.org/"},{"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":"Asociación Española de Paraparesia Espástica Familiar","Website__c":"https://aepef.org"},{"Account_Name__c":"National Ataxia Foundation","Website__c":"https://ataxia.org/"},{"Account_Name__c":"Spastic Paraplegia Foundation","Website__c":"https://sp-foundation.org/"},{"Account_Name__c":"HSP Research Foundation","Website__c":"https://hspersunite.org.au/"},{"Account_Name__c":"The Hereditary Spastic Paraplegia Support Group","Website__c":"https://hspgroup.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic 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":"Hereditary Spastic Paraplegia","Tag_Category__c":"Account","curated_tag_name":"Hereditary spastic paraplegia"},{"Tag_Name__c":"Neuromuscular medicine","Tag_Category__c":"Specialist","curated_tag_name":"Neuromuscular medicine"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:685"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0037773"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/685","Source__c":"C0037773; MONDO:0019064; ORPHA:685","Xref__c":"ORPHA:685"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A2476","Source__c":"MONDO:0019064","Xref__c":"DOID:2476"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C015419","Source__c":"C0037773; MONDO:0019064","Xref__c":"D015419"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS303350","Source__c":"MONDO:0019064","Xref__c":"OMIMPS:303350"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C140267","Source__c":"C0037773; MONDO:0019064","Xref__c":"C140267"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=20844","Source__c":"C0037773","Xref__c":"MEDGEN:20844"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=39912006","Source__c":"C0037773; MONDO:0019064","Xref__c":"39912006"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0037773","Source__c":"C0037773","Xref__c":"C0037773"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/G11.4","Source__c":"MONDO:0019064","Xref__c":"G11.4"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019064","Source__c":"GARD:0006637","Xref__c":"MONDO:0019064"},{"URL__c":"https://www.ninds.nih.gov/health-information/disorders/hereditary-spastic-paraplegia"}],"Inheritance__c":["Autosomal recessive","Autosomal dominant","X-linked recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"Account":["Hereditary Spastic Paraplegia"]},"synonyms":["familial spastic paraparesis"," familial spastic paraplegia"," familial spastic paraplegia syndrome"," french settlement disease"," hereditary spastic paraparesis"," hsp"," hsp - hereditary spastic paraplegia"," spastic congenital paraplegia"," spg"," strumpell-lorrain disease"," strümpell-lorrain disease"],"spanishId":13713,"spanishName":"paraplejia-espastica-hereditaria"}