{"Name":"Hereditary spastic paraplegia 24","DiseaseID__c":"GARD:0009296","id":9296,"encodedName":"hereditary-spastic-paraplegia-24","IsDeleted":false,"Disease_Name_Full__c":"Hereditary spastic paraplegia 24","Xref_IDs__c":"C1843569; C564375; DOID:0110775; MEDGEN:334784; MONDO:0011862; OMIM:607584; ORPHA:101004","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":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0011862","Disease_Description__c":"A hereditary spastic paraplegia that has material basis in variation in the chromosome region 13q14.","GARD_Name__c":"Hereditary spastic paraplegia 24","GARD_Synonym__c":"autosomal recessive spastic paraplegia 24; autosomal recessive spastic paraplegia type 24; hereditary spastic paraplegia type 24; spastic paraplegia 24, autosomal recessive; spg24","Curated_Disease_Description_Source__c":"MONDO:0011862","Curated_Disease_Description__c":"A hereditary spastic paraplegia that has material basis in variation in the chromosome region 13q14.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant","SourceID__c":"ORPHA:101004","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011862","ORPHANET_ID__c":"ORPHA:101004","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Paraplejía espástica autosómica recesiva tipo 24","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"paraplejía espástica autosómica recesiva tipo 24","Spanish_GARD_Synonym__c":"spg24","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":"A hereditary spastic paraplegia that has material basis in variation in the chromosome region 13q14.","Curated_Disease_Description_Source__c":"MONDO:0011862","GARD_Synonym__c":"autosomal recessive spastic paraplegia 24; autosomal recessive spastic paraplegia type 24; hereditary spastic paraplegia type 24; spastic paraplegia 24, autosomal recessive; spg24","Name":"Hereditary spastic paraplegia 24","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":"Infancy","Provided_By__c":"ORPHA:101004"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/607584","Source__c":"C1843569; MONDO:0011862; ORPHA:101004","Xref__c":"OMIM:607584"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110775","Source__c":"MONDO:0011862","Xref__c":"DOID:0110775"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564375","Source__c":"MONDO:0011862","Xref__c":"C564375"},{"URL__c":"https://www.orpha.net/en/disease/detail/101004","Source__c":"C1843569; MONDO:0011862; ORPHA:101004","Xref__c":"ORPHA:101004"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=334784","Source__c":"C1843569","Xref__c":"MEDGEN:334784"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1843569","Source__c":"C1843569","Xref__c":"C1843569"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=785304005","Source__c":"C1843569","Xref__c":"785304005"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011862","Source__c":"GARD:0009296","Xref__c":"MONDO:0011862"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:101004","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal gait pattern characterized by the failure of the heel to contact the floor at the onset of stance during gait.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030051","HPO_Synonym__c":"Tiptoe gait; Toe walking; Walking on tiptoes","HPO_Name__c":"Tip-toe gait","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101004","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000407","HPO_Synonym__c":"Hearing loss, sensorineural; Sensorineural deafness; Sensorineural hearing loss","HPO_Name__c":"Sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101004","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of spastic paraparetic gait in which the muscle tone in the adductors is marked. It is characterized by hypertonia and flexion in the legs, hips and pelvis accompanied by extreme adduction leading to the knees and thighs hitting, or sometimes even crossing, in a scissors-like movement. The opposing muscles (abductors) become comparatively weak from lack of use.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012407","HPO_Synonym__c":"Scissor gait; Scissor walk; Scissoring gait; Scissoring of the lower extremities; Scissoring of the lower limbs; Scissors gait","HPO_Name__c":"Scissor gait","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101004","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001347","HPO_Synonym__c":"Increased deep tendon reflexes; Increased reflexes","HPO_Name__c":"Hyperreflexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101004","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001257","HPO_Synonym__c":"Involuntary muscle stiffness, contraction, or spasm; Muscle spasticity; Muscular spasticity","HPO_Name__c":"Spasticity","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101004","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A series of rhythmic and involuntary muscle contractions (at a frequency of about 5 to 7 Hz) that occur in response to an abruptly applied and sustained stretch.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002169","HPO_Synonym__c":"Involuntary rhythmic muscular contractions and relaxations","HPO_Name__c":"Clonus","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101004","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Complete 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:0001258","HPO_Synonym__c":"Spastic paraplegia, lower limb","HPO_Name__c":"Spastic paraplegia","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 recessive spastic paraplegia 24"," autosomal recessive spastic paraplegia type 24"," hereditary spastic paraplegia type 24"," spastic paraplegia 24, autosomal recessive"," spg24"]}