{"Name":"Amyotrophic lateral sclerosis-parkinsonism-dementia complex","DiseaseID__c":"GARD:0009239","id":9239,"encodedName":"amyotrophic-lateral-sclerosis-parkinsonism-dementia-complex","IsDeleted":false,"Disease_Name_Full__c":"Amyotrophic lateral sclerosis-parkinsonism-dementia complex","Xref_IDs__c":"423022660; C0543859; DOID:0111246; MEDGEN:107775; MONDO:0007104; OMIM:105500; ORPHA:90020","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":0,"Description_Source__c":"ORPHA:90020","Disease_Description__c":"A rare neurodegenerative disease characterized by extrapyramidal symptoms (rigidity, tremor, bradykinesia) and dementia, typically beginning in the fifth or sixth decade of life and progressing to a vegetative state with pelvicrural flexion contractures within few years. Oculomotor signs, olfactory dysfunction, and autonomic disturbances may also be observed. Neuropathological hallmarks are frontotemporally accentuated cerebral atrophy, as well as neurofibrillary tangles and neuronal loss in a characteristic distribution in cortical and subcortical regions. The disease is endemic to the Pacific island of Guam.","GARD_Name__c":"Amyotrophic lateral sclerosis-parkinsonism-dementia complex","GARD_Synonym__c":"amyotrophic lateral sclerosis-parkinsonism-dementia of guam syndrome; amyotrophic lateral sclerosis-parkinsonism/dementia complex 1; amyotrophic lateral sclerosis-parkinsonism/dementia complex type 1; amyotrophic lateral sclerosis, parkinsonism, dementia complex; amyotrophic lateral sclerosis, parkinsonism, dementia of guam syndrome; g-pdc; guam disease; guam parkinsonism-dementia complex; lytico bodig disease; lytico-bodig disease; lytigo-bodig disease; parkinson-dementia complex of guam; parkinsonism-dementia-als complex; pdals; pdals (parkinsonism, dementia, amyotrophic lateral sclerosis) complex","Curated_Disease_Description_Source__c":"ORPHA:90020","Curated_Disease_Description__c":"A rare neurodegenerative disease characterized by extrapyramidal symptoms (rigidity, tremor, bradykinesia) and dementia, typically beginning in the fifth or sixth decade of life and progressing to a vegetative state with pelvicrural flexion contractures within few years. Oculomotor signs, olfactory dysfunction, and autonomic disturbances may also be observed. Neuropathological hallmarks are frontotemporally accentuated cerebral atrophy, as well as neurofibrillary tangles and neuronal loss in a characteristic distribution in cortical and subcortical regions. The disease is endemic to the Pacific island of Guam.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:90020","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007104","ORPHANET_ID__c":"ORPHA:90020","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Complejo parkinson-demencia de guam","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"complejo parkinson-demencia de guam","Spanish_GARD_Synonym__c":"compejo parkinsonismo-demencia de guam; enfermedad 'lytico-bodig'; enfermedad de guam","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 neurodegenerative disease characterized by extrapyramidal symptoms (rigidity, tremor, bradykinesia) and dementia, typically beginning in the fifth or sixth decade of life and progressing to a vegetative state with pelvicrural flexion contractures within few years. Oculomotor signs, olfactory dysfunction, and autonomic disturbances may also be observed. Neuropathological hallmarks are frontotemporally accentuated cerebral atrophy, as well as neurofibrillary tangles and neuronal loss in a characteristic distribution in cortical and subcortical regions. The disease is endemic to the Pacific island of Guam.","Curated_Disease_Description_Source__c":"ORPHA:90020","GARD_Synonym__c":"amyotrophic lateral sclerosis-parkinsonism-dementia of guam syndrome; amyotrophic lateral sclerosis-parkinsonism/dementia complex 1; amyotrophic lateral sclerosis-parkinsonism/dementia complex type 1; amyotrophic lateral sclerosis, parkinsonism, dementia complex; amyotrophic lateral sclerosis, parkinsonism, dementia of guam syndrome; g-pdc; guam disease; guam parkinsonism-dementia complex; lytico bodig disease; lytico-bodig disease; lytigo-bodig disease; parkinson-dementia complex of guam; parkinsonism-dementia-als complex; pdals; pdals (parkinsonism, dementia, amyotrophic lateral sclerosis) complex","Name":"Amyotrophic lateral sclerosis-parkinsonism-dementia complex","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"ALS Association","Website__c":"https://www.als.org/"}],"GARD_Disease_Tag__c":[{"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"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009239","Source__c":"RareSource"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111246","Source__c":"MONDO:0007104","Xref__c":"DOID:0111246"},{"URL__c":"https://www.omim.org/entry/105500","Source__c":"C0543859; MONDO:0007104; ORPHA:90020","Xref__c":"OMIM:105500"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0543859","Source__c":"C0543859","Xref__c":"C0543859"},{"URL__c":"https://www.orpha.net/en/disease/detail/90020","Source__c":"C0543859; MONDO:0007104; ORPHA:90020","Xref__c":"ORPHA:90020"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=107775","Source__c":"C0543859","Xref__c":"MEDGEN:107775"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=838276009","Source__c":"C0543859","Xref__c":"838276009"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007104","Source__c":"GARD:0009239","Xref__c":"MONDO:0007104"},{"URL__c":"https://secure.ssa.gov/apps10/poms.nsf/lnx/0423022660","Xref__c":"423022660"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TRPM7","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:105500","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":"OMIM:105500","Feature__r":{"HPO_Description__c":"Reduced strength of muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001324","HPO_Synonym__c":"Muscle weakness; Muscular weakness","HPO_Name__c":"Muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:105500","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002059","HPO_Synonym__c":"Degeneration of cerebrum","HPO_Name__c":"Cerebral atrophy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:105500","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007354","HPO_Name__c":"Amyotrophic lateral sclerosis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:105500","Feature__r":{"HPO_Description__c":"Any structural anomaly of the lower motor neuron.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002366","HPO_Synonym__c":"Lower motor neuron disease; Lower motor neuron manifestations; Lower motor neuron signs","HPO_Name__c":"Abnormal lower motor neuron morphology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:105500","Feature__r":{"HPO_Description__c":"Bulbar weakness (or bulbar palsy) refers to bilateral impairment of function of the lower cranial nerves IX, X, XI and XII, which occurs due to lower motor neuron lesion either at nuclear or fascicular level in the medulla or from bilateral lesions of the lower cranial nerves outside the brain-stem. Bulbar weakness is often associated with difficulty in chewing, weakness of the facial muscles, dysarthria, palatal weakness and regurgitation of fluids, dysphagia, and dysphonia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001283","HPO_Synonym__c":"Bulbar muscle weakness; Bulbar palsies; Bulbar weakness","HPO_Name__c":"Bulbar palsy","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:105500","Feature__r":{"HPO_Description__c":"Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003470","HPO_Synonym__c":"Inability to move; Paralysis","HPO_Name__c":"Paralysis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:105500","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; Muscle spasms","HPO_Name__c":"Muscle spasm","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Neurology"],"Specialist":["Neurology","Psychiatry"]},"synonyms":["amyotrophic lateral sclerosis-parkinsonism-dementia of guam syndrome"," amyotrophic lateral sclerosis-parkinsonism/dementia complex 1"," amyotrophic lateral sclerosis-parkinsonism/dementia complex type 1"," amyotrophic lateral sclerosis, parkinsonism, dementia complex"," amyotrophic lateral sclerosis, parkinsonism, dementia of guam syndrome"," g-pdc"," guam disease"," guam parkinsonism-dementia complex"," lytico bodig disease"," lytico-bodig disease"," lytigo-bodig disease"," parkinson-dementia complex of guam"," parkinsonism-dementia-als complex"," pdals"," pdals (parkinsonism, dementia, amyotrophic lateral sclerosis) complex"]}