{"Name":"Corticobasal syndrome","DiseaseID__c":"GARD:0013168","id":13168,"encodedName":"corticobasal-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Corticobasal syndrome","Xref_IDs__c":"1230018005; C5575119; DOID:0081392; MEDGEN:1801322; MONDO:0018696; ORPHA:454887","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"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":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0018696","Disease_Description__c":"A rare neurologic disease characterized by multifaceted motor system dysfunctions and cognitive defects such as asymmetric rigidity, bradykinesia, limb apraxia, and visuospatial dysfunction.","GARD_Name__c":"Corticobasal syndrome","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"MONDO:0018696","Curated_Disease_Description__c":"A rare neurologic disease characterized by multifaceted motor system dysfunctions and cognitive defects such as asymmetric rigidity, bradykinesia, limb apraxia, and visuospatial dysfunction.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult and as an Older Adult","SourceID__c":"ORPHA:454887","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018696","ORPHANET_ID__c":"ORPHA:454887","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome corticobasal","Spanish_Description_Source__c":"ORPHA:454887","Spanish_Description__c":"Es una enfermedad neurológica poco frecuente caracterizada por diversos trastornos del sistema motor y defectos cognitivos tales como rigidez asimétrica, bradicinesia, apraxia de las extremidades y disfunción visoespacial.","Spanish_Disease_Name__c":"síndrome corticobasal","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":"A rare neurologic disease characterized by multifaceted motor system dysfunctions and cognitive defects such as asymmetric rigidity, bradykinesia, limb apraxia, and visuospatial dysfunction.","Curated_Disease_Description_Source__c":"MONDO:0018696","Name":"Corticobasal syndrome","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Parkinson & Movement Disorder Alliance","Website__c":"https://www.pmdalliance.org/"},{"Account_Name__c":"International Parkinson and Movement Disorder Society","Website__c":"https://www.movementdisorders.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":"Psychiatry","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Parkinsonism","Tag_Category__c":"Account","curated_tag_name":"Parkinsonism"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Elderly","Provided_By__c":"ORPHA:454887"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:454887"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5575119","Source__c":"C5575119","Xref__c":"C5575119"},{"URL__c":"https://www.orpha.net/en/disease/detail/454887","Source__c":"C5575119; MONDO:0018696","Xref__c":"ORPHA:454887"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0081392","Source__c":"MONDO:0018696","Xref__c":"DOID:0081392"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1801322","Source__c":"C5575119","Xref__c":"MEDGEN:1801322"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018696","Source__c":"GARD:0013168","Xref__c":"MONDO:0018696"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1230018005","Source__c":"C5575119","Xref__c":"1230018005"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:454887","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000726","HPO_Synonym__c":"Dementia; Dementia, progressive; Progressive dementia","HPO_Name__c":"Dementia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:454887","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Oral-motor apraxia is the inability to volitionally sequence oral movements of the speech structure for nonspeech tasks in the absence of neuromuscular deficits such as paralysis or muscle weakness. Oral-motor apraxia is diagnosed when, despite intact sensory motor function an individual is unable to use these effector systems under voluntary control.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007301","HPO_Synonym__c":"Oral-motor apraxia","HPO_Name__c":"Oromotor apraxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:454887","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003474","HPO_Synonym__c":"Sensory impairment","HPO_Name__c":"Somatic sensory dysfunction","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:454887","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004305","HPO_Synonym__c":"Involuntary movements; Involuntary muscle contractions","HPO_Name__c":"Involuntary movements","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:454887","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001332","HPO_Synonym__c":"Dystonic movements","HPO_Name__c":"Dystonia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:454887","HPO_Frequency__c":"Frequent (30-79%)","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:454887","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Difficulty in performing the correct execution of limbs movements in absence of motor impairment.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030217","HPO_Name__c":"Limb apraxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:454887","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002354","HPO_Synonym__c":"Amnesia; Forgetfulness; Memory impairment; Memory loss; Memory problems; Poor memory","HPO_Name__c":"Memory impairment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:454887","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002304","HPO_Name__c":"Akinesia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:454887","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0045084","HPO_Synonym__c":"Myoclonus of limbs","HPO_Name__c":"Limb myoclonus","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:454887","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of apraxia that is characterized by difficulty or inability to execute speech movements because of problems with coordination and motor problems, leading to incorrect articulation. An increase of errors with increasing word and phrase length may occur.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011098","HPO_Synonym__c":"Apraxia of speech; Verbal dyspraxia","HPO_Name__c":"Speech apraxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:454887","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002067","HPO_Synonym__c":"Slow movements; Slowness of movements","HPO_Name__c":"Bradykinesia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:454887","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002451","HPO_Name__c":"Limb dystonia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:454887","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A progressive degree of muscular rigidity (continuous contraction of muscles with constant resistance to passive movement).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007158","HPO_Synonym__c":"Progressive extrapyramidal rigidity","HPO_Name__c":"Progressive extrapyramidal muscular rigidity","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:454887","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001300","HPO_Name__c":"Parkinsonism","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:454887","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An unintentional, oscillating to-and-fro muscle movement about a joint axis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001337","HPO_Synonym__c":"Tremor; Tremors","HPO_Name__c":"Tremor","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:454887","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002381","HPO_Synonym__c":"Difficulty finding words; Losing words; Loss of words","HPO_Name__c":"Aphasia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:454887","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002172","HPO_Synonym__c":"Balance impairment","HPO_Name__c":"Postural instability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:454887","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Primitive reflexes traditionally held to be a sign of disorders that affect the frontal lobes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000743","HPO_Synonym__c":"Frontal release reflexes","HPO_Name__c":"Frontal release signs","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:454887","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Atypical behavior is an abnormality in a person's actions that can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000708","HPO_Synonym__c":"Behavioral abnormality; Behavioral changes; Behavioral disorders; Behavioral disturbances; Behavioral problems; Behavioral symptoms; Behavioral/psychiatric abnormalities; Behavioural symptoms; Behavioural/Psychiatric abnormality; Psychiatric disorders; Psychiatric disturbances","HPO_Name__c":"Atypical behavior","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:454887","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100022","HPO_Synonym__c":"Abnormality of movement; Movement disorder; Unusual movement","HPO_Name__c":"Abnormality of movement","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:454887","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001336","HPO_Synonym__c":"Myoclonic jerks","HPO_Name__c":"Myoclonus","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Psychiatry"],"Account":["Parkinsonism"]},"synonyms":[""]}