{"Name":"Foix chavany Marie syndrome","DiseaseID__c":"GARD:0002351","id":2351,"encodedName":"foix-chavany-marie-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Foix chavany Marie syndrome","Xref_IDs__c":"720956003; C2931412; C537069; MEDGEN:419406; MONDO:0023171; ORPHA:2048","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":2,"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":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0023171","Disease_Description__c":"A rare cortico-subcortical suprabulbar or pseudobulbar palsy of the lower cranial nerves, characterized by severe dysarthria and dysphagia associated with bilateral central facio-pharyngo-glosso-masticatory paralysis, with prominent automatic-voluntary dissociation in which involuntary movements of the affected muscles are preserved.","GARD_Name__c":"Foix chavany Marie syndrome","GARD_Synonym__c":"bilateral anterior opercular syndrome; facio-pharyngo-glossal diplegia with automatic-voluntary movement dissociation; facio-pharyngo-glosso-masticatory diplegia; foix-chavany-marie syndrome","Curated_Disease_Description_Source__c":"MONDO:0023171","Curated_Disease_Description__c":"A rare cortico-subcortical suprabulbar or pseudobulbar palsy of the lower cranial nerves, characterized by severe dysarthria and dysphagia associated with bilateral central facio-pharyngo-glosso-masticatory paralysis, with prominent automatic-voluntary dissociation in which involuntary movements of the affected muscles are preserved.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:2048","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0023171","ORPHANET_ID__c":"ORPHA:2048","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de foix-chavany-marie","Spanish_Description_Source__c":"ORPHA:2048","Spanish_Description__c":"Es una parálisis pseudo-bulbar o suprabulbar cortico-subcortical de los nervios craneales inferiores. Está caracterizada por una disartria grave y una disfagia asociada a una parálisis central bilateral facio-faringo-gloso-masticatoria, con una significativa disociación del movimiento automático-voluntario, conservando los movimientos involuntarios de los músculos afectados.","Spanish_Disease_Name__c":"síndrome de foix-chavany-marie","Spanish_GARD_Synonym__c":"diplejía facio-faringo-glosa con disociación de movimientos automáticos voluntarios; diplejía facio-faringo-gloso-masticatoria; síndrome opercular anterior bilateral","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 cortico-subcortical suprabulbar or pseudobulbar palsy of the lower cranial nerves, characterized by severe dysarthria and dysphagia associated with bilateral central facio-pharyngo-glosso-masticatory paralysis, with prominent automatic-voluntary dissociation in which involuntary movements of the affected muscles are preserved.","Curated_Disease_Description_Source__c":"MONDO:0023171","GARD_Synonym__c":"bilateral anterior opercular syndrome; facio-pharyngo-glossal diplegia with automatic-voluntary movement dissociation; facio-pharyngo-glosso-masticatory diplegia; foix-chavany-marie syndrome","Name":"Foix chavany Marie syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Peripheral Neuropathy","Tag_Category__c":"Account","curated_tag_name":"Peripheral neuropathy"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:2048"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=419406","Source__c":"C2931412","Xref__c":"MEDGEN:419406"},{"URL__c":"https://www.orpha.net/en/disease/detail/2048","Source__c":"C2931412; MONDO:0023171; ORPHA:2048","Xref__c":"ORPHA:2048"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=720956003","Source__c":"C2931412; MONDO:0023171","Xref__c":"720956003"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2931412","Source__c":"C2931412","Xref__c":"C2931412"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537069","Source__c":"MONDO:0023171","Xref__c":"C537069"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0023171","Source__c":"GARD:0002351","Xref__c":"MONDO:0023171"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2048","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Complete lack of development of speech and language abilities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001344","HPO_Synonym__c":"Absent speech development; Lack of language development; Lack of speech; No speech development; No speech or language development; Nonverbal","HPO_Name__c":"Absent speech","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2048","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001608","HPO_Synonym__c":"Abnormality of the voice; Voice abnormality","HPO_Name__c":"Abnormality of the voice","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2048","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal structure of the first digit of the hand.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001172","HPO_Synonym__c":"Abnormality of the thumb; Abnormality of the thumbs; Thumb deformity","HPO_Name__c":"Abnormal thumb morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2048","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100543","HPO_Synonym__c":"Abnormality of cognition; Cognitive abnormality; Cognitive defects; Cognitive deficits; Cognitive impairment; Intellectual impairment","HPO_Name__c":"Cognitive impairment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2048","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001263","HPO_Synonym__c":"Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; GDD; Lack of psychomotor development; Motor and developmental delay; Motormental retardation; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development","HPO_Name__c":"Global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2048","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:2048","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Neurology"],"Specialist":["Neurology","Pediatrics"],"Account":["Peripheral Neuropathy"]},"synonyms":["bilateral anterior opercular syndrome"," facio-pharyngo-glossal diplegia with automatic-voluntary movement dissociation"," facio-pharyngo-glosso-masticatory diplegia"," foix-chavany-marie syndrome"]}