{"Name":"Hereditary spastic paraplegia 8","DiseaseID__c":"GARD:0009591","id":9591,"encodedName":"hereditary-spastic-paraplegia-8","IsDeleted":false,"Disease_Name_Full__c":"Hereditary spastic paraplegia 8","Xref_IDs__c":"C1863704; C580458; DOID:0110823; MEDGEN:400359; MONDO:0011339; OMIM:603563; ORPHA:100989","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":2,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0011339","Disease_Description__c":"Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the WASHC5 gene.","GARD_Name__c":"Hereditary spastic paraplegia 8","GARD_Synonym__c":"autosomal dominant spastic paraplegia 8; autosomal dominant spastic paraplegia type 8; hereditary spastic paraplegia caused by mutation in washc5; 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autosomal dominant spastic paraplegia type 8; hereditary spastic paraplegia caused by mutation in washc5; hereditary spastic paraplegia type 8; spastic paraplegia 8, autosomal dominant; spg8; washc5 hereditary spastic paraplegia","Name":"Hereditary spastic paraplegia 8","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Spastic Paraplegia Foundation","Website__c":"https://sp-foundation.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":"Adult","Provided_By__c":"ORPHA:100989"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:100989"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1863704"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009591","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1827","Source__c":"Gene Review","Xref__c":"NBK1827"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1863704","Source__c":"C1863704","Xref__c":"C1863704"},{"URL__c":"https://www.orpha.net/en/disease/detail/100989","Source__c":"C1863704; MONDO:0011339; ORPHA:100989","Xref__c":"ORPHA:100989"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=400359","Source__c":"C1863704","Xref__c":"MEDGEN:400359"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110823","Source__c":"MONDO:0011339","Xref__c":"DOID:0110823"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C580458","Source__c":"MONDO:0011339","Xref__c":"C580458"},{"URL__c":"https://www.omim.org/entry/603563","Source__c":"C1863704; MONDO:0011339; ORPHA:100989","Xref__c":"OMIM:603563"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011339","Source__c":"GARD:0009591","Xref__c":"MONDO:0011339"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=785305006","Source__c":"C1863704","Xref__c":"785305006"},{"URL__c":"https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-8"},{"URL__c":"https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-8","Source__c":"GARD:0009591","Xref__c":"https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-8"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"WASHC5","GHR_URL__c":"https://medlineplus.gov/genetics/gene/washc5","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:100989","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"Abnormal results of investigations using electromyography (EMG).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003457","HPO_Synonym__c":"Abnormal electromyography finding; Abnormal EMG; Electromyogram abnormal; EMG abnormalities","HPO_Name__c":"EMG abnormality","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Procedure_EMG"}},{"Provided_By__c":"ORPHA:100989","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Deterioration of the tissues of the lateral corticospinal tracts.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002314","HPO_Synonym__c":"Degeneration of lateral corticospinal tracts","HPO_Name__c":"Degeneration of the lateral corticospinal tracts","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100989","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Spasticity is manifested by increased stretch reflex which is intensified with movement velocity. This results in excessive and inappropriate muscle activation which can contribute to muscle hypertonia. 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If the Babinski sign is present it can indicate damage to the corticospinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003487","HPO_Synonym__c":"Extensor plantar reflexes; Extensor plantar response; Extensor plantar responses; Positive Babinski sign","HPO_Name__c":"Babinski sign","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100989","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100561","HPO_Name__c":"Spinal cord lesion","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100989","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A decrease in the ability to perceive vibration in the legs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002166","HPO_Synonym__c":"Decreased lower limb vibratory sense; Decreased vibratory sense in lower limbs; Decreased vibratory sense in the lower extremities; Decreased vibratory sense in the lower limbs; Diminished vibratory sensation in the legs; Distal sensory loss, especially vibratory sense; Distal vibratory impairment of the lower limbs; Impaired vibration sensation in the lower limbs","HPO_Name__c":"Impaired vibration sensation in the lower limbs","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100989","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001761","HPO_Synonym__c":"Cavus foot; High-arched foot","HPO_Name__c":"Pes cavus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100989","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Sudden and involuntary contractions of one or more muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003394","HPO_Synonym__c":"Muscle cramps; 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Lower extremity spasticity; Spastic lower extremities; Spastic lower extremity; Spastic lower limb; Spastic lower limbs; Spasticity in lower extremities; Spasticity in lower extremity; Spasticity in lower limb; Spasticity in lower limbs; Spasticity of lower extremities; Spasticity of lower extremity; Spasticity of lower limb; Spasticity of lower limbs","HPO_Name__c":"Lower limb spasticity","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100989","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The term gait disturbance can refer to any disruption of the ability to walk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001288","HPO_Synonym__c":"Abnormal gait; Abnormal walk; Difficulty in walking; Gait abnormalities; Gait difficulties; Gait disturbances; Impaired gait; Walking disability","HPO_Name__c":"Gait disturbance","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100989","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006986","HPO_Synonym__c":"Spastic upper extremities; Spastic upper extremity; Spastic upper limb; Spastic upper limbs; Spasticity in upper extremities; Spasticity in upper extremity; Spasticity in upper limb; Spasticity in upper limbs; Spasticity of upper extremities; Spasticity of upper extremity; Spasticity of upper limb; Spasticity of upper limbs; Uncontrollable movement in upper arms; Upper extremities spasticity; Upper extremity spasticity","HPO_Name__c":"Upper limb spasticity","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"Account":["Hereditary Spastic Paraplegia"]},"synonyms":["autosomal dominant spastic paraplegia 8"," autosomal dominant spastic paraplegia type 8"," hereditary spastic paraplegia caused by mutation in washc5"," hereditary spastic paraplegia type 8"," spastic paraplegia 8, autosomal dominant"," spg8"," washc5 hereditary spastic paraplegia"]}