{"Name":"Hereditary spastic paraplegia 32","DiseaseID__c":"GARD:0012749","id":12749,"encodedName":"hereditary-spastic-paraplegia-32","IsDeleted":false,"Disease_Name_Full__c":"Hereditary spastic paraplegia 32","Xref_IDs__c":"726606003; C1970009; C566983; DOID:0110783; MEDGEN:409967; MONDO:0012643; OMIM:611252; ORPHA:171622","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":2,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0012643","Disease_Description__c":"Autosomal recessive spastic paraplegia type 32 (SPG32) is a rare, complex type of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with walking difficulties appearing at onset at 6-7 years of age) associated with mild intellectual disability. Brain imaging reveals thin corpus callosum, cortical and cerebellar atrophy, and pontine dysraphia. The SPG32 phenotype has been mapped to a locus on chromosome 14q12-q21.","GARD_Name__c":"Hereditary spastic paraplegia 32","GARD_Synonym__c":"autosomal recessive spastic paraplegia 32; autosomal recessive spastic paraplegia type 32; hereditary spastic paraplegia type 32; spastic paraplegia 32, autosomal recessive; spg32","Curated_Disease_Description_Source__c":"MONDO:0012643","Curated_Disease_Description__c":"Autosomal recessive spastic paraplegia type 32 (SPG32) is a rare, complex type of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with walking difficulties appearing at onset at 6-7 years of age) associated with mild intellectual disability. Brain imaging reveals thin corpus callosum, cortical and cerebellar atrophy, and pontine dysraphia. The SPG32 phenotype has been mapped to a locus on chromosome 14q12-q21.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:171622","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012643","ORPHANET_ID__c":"ORPHA:171622","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Paraplejía espástica autosómica recesiva tipo 32","Spanish_Description_Source__c":"ORPHA:171622","Spanish_Description__c":"Es un tipo poco frecuente y complejo de paraparesia espástica hereditaria caracterizado por paraparesia espástica de progresión lenta (con dificultades de la marcha de inicio a los 6-7 años de edad) asociada a leve discapacidad intelectual. La neuroimagen muestra un adelgazamiento del cuerpo calloso, atrofia cortical y cerebelosa, y disrafia del tronco cerebral. El fenotipo de la enfermedad se ha mapeado en un locus del cromosoma 14q12-q21.","Spanish_Disease_Name__c":"paraplejía espástica autosómica recesiva tipo 32","Spanish_GARD_Synonym__c":null,"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":"Autosomal recessive spastic paraplegia type 32 (SPG32) is a rare, complex type of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with walking difficulties appearing at onset at 6-7 years of age) associated with mild intellectual disability. Brain imaging reveals thin corpus callosum, cortical and cerebellar atrophy, and pontine dysraphia. The SPG32 phenotype has been mapped to a locus on chromosome 14q12-q21.","Curated_Disease_Description_Source__c":"MONDO:0012643","GARD_Synonym__c":"autosomal recessive spastic paraplegia 32; autosomal recessive spastic paraplegia type 32; hereditary spastic paraplegia type 32; spastic paraplegia 32, autosomal recessive; spg32","Name":"Hereditary spastic paraplegia 32","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":"Childhood","Provided_By__c":"ORPHA:171622"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/611252","Source__c":"C1970009; MONDO:0012643; ORPHA:171622","Xref__c":"OMIM:611252"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=726606003","Source__c":"C1970009; MONDO:0012643","Xref__c":"726606003"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1970009","Source__c":"C1970009","Xref__c":"C1970009"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110783","Source__c":"MONDO:0012643","Xref__c":"DOID:0110783"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C566983","Source__c":"MONDO:0012643","Xref__c":"C566983"},{"URL__c":"https://www.orpha.net/en/disease/detail/171622","Source__c":"C1970009; MONDO:0012643; ORPHA:171622","Xref__c":"ORPHA:171622"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=409967","Source__c":"C1970009","Xref__c":"MEDGEN:409967"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012643","Source__c":"GARD:0012749","Xref__c":"MONDO:0012643"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:171622","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001256","HPO_Synonym__c":"Intellectual disability, mild; Mental retardation, borderline-mild; Mild and nonprogressive mental retardation; Mild mental retardation","HPO_Name__c":"Mild intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171622","HPO_Frequency__c":"Always (100%)","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:171622","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001328","HPO_Name__c":"Specific learning disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171622","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007020","HPO_Name__c":"Progressive spastic paraplegia","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171622","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A structural abnormality of the pons.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007361","HPO_Synonym__c":"Abnormality of the pons","HPO_Name__c":"Abnormal pons morphology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171622","HPO_Frequency__c":"Always (100%)","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:171622","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:171622","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. 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:171622","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased intensity of the a reflex in the leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002395","HPO_Synonym__c":"Brisk lower extremity reflexes; Hyperreflexia in lower limbs; Hyperreflexia in the lower limbs; Increased deep tendon reflexes in the lower limbs; Leg hyperreflexia; Overactive lower leg reflex","HPO_Name__c":"Lower limb hyperreflexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171622","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007133","HPO_Synonym__c":"Progressive polyneuropathy","HPO_Name__c":"Progressive peripheral neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171622","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the corpus callosum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002079","HPO_Synonym__c":"Corpus callosum hypoplasia; Hypoplasia of corpus callosum; Hypoplastic corpus callosum; Underdevelopment of part of brain called corpus callosum","HPO_Name__c":"Hypoplasia of the corpus callosum","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171622","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Spasticity that increases in degree with time.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002191","HPO_Synonym__c":"Spasticity, progressive","HPO_Name__c":"Progressive spasticity","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171622","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Atrophy (wasting) of the cerebellar cortex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008278","HPO_Synonym__c":"Cerebellar cortex degeneration","HPO_Name__c":"Cerebellar cortical atrophy","Feature_System__c":"Nervous 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 32"," autosomal recessive spastic paraplegia type 32"," hereditary spastic paraplegia type 32"," spastic paraplegia 32, autosomal recessive"," spg32"]}