{"Name":"Myoclonic cerebellar dyssynergia","DiseaseID__c":"GARD:0009256","id":9256,"encodedName":"myoclonic-cerebellar-dyssynergia","IsDeleted":false,"Disease_Name_Full__c":"Myoclonic cerebellar dyssynergia","Xref_IDs__c":"73495003; C3489626; D002527; DOID:12707; MEDGEN:483579; MONDO:0008945; OMIM:213400","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"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":1,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0008945","Disease_Description__c":"A condition marked by progressive cerebellar ataxia combined with myoclonus usually presenting in the third decade of life or later. Additional clinical features may include generalized and focal seizures, spasticity, and dyskinesias. Autosomal recessive and autosomal dominant patterns of inheritance have been reported. Pathologically, the dentate nucleus and brachium conjunctivum of the cerebellum are atrophic, with variable involvement of the spinal cord, cerebellar cortex, and basal ganglia. (From Joynt, Clinical Neurology, 1991, Ch37, pp60-1)","GARD_Name__c":"Myoclonic cerebellar dyssynergia","GARD_Synonym__c":"cerebelloparenchymal disorder type 5; cerebelloparenchymal disorder v; cpd5; dyssynergia cerebellaris myoclonica; dyssynergia cerebellaris myoclonica of hunt; myoclonus and ataxia; progressive cerebellar tremor; spinodentate atrophy","Curated_Disease_Description_Source__c":"MONDO:0008945","Curated_Disease_Description__c":"A condition marked by progressive cerebellar ataxia combined with myoclonus usually presenting in the third decade of life or later. Additional clinical features may include generalized and focal seizures, spasticity, and dyskinesias. Autosomal recessive and autosomal dominant patterns of inheritance have been reported. Pathologically, the dentate nucleus and brachium conjunctivum of the cerebellum are atrophic, with variable involvement of the spinal cord, cerebellar cortex, and basal ganglia. (From Joynt, Clinical Neurology, 1991, Ch37, pp60-1)","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":null,"Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008945","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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 condition marked by progressive cerebellar ataxia combined with myoclonus usually presenting in the third decade of life or later. Additional clinical features may include generalized and focal seizures, spasticity, and dyskinesias. Autosomal recessive and autosomal dominant patterns of inheritance have been reported. Pathologically, the dentate nucleus and brachium conjunctivum of the cerebellum are atrophic, with variable involvement of the spinal cord, cerebellar cortex, and basal ganglia. (From Joynt, Clinical Neurology, 1991, Ch37, pp60-1)","Curated_Disease_Description_Source__c":"MONDO:0008945","GARD_Synonym__c":"cerebelloparenchymal disorder type 5; cerebelloparenchymal disorder v; cpd5; dyssynergia cerebellaris myoclonica; dyssynergia cerebellaris myoclonica of hunt; myoclonus and ataxia; progressive cerebellar tremor; spinodentate atrophy","Name":"Myoclonic cerebellar dyssynergia","estimateUsa":""}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/213400","Source__c":"C3489626; MONDO:0008945","Xref__c":"OMIM:213400"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=483579","Source__c":"C3489626","Xref__c":"MEDGEN:483579"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A12707","Source__c":"MONDO:0008945","Xref__c":"DOID:12707"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C002527","Source__c":"MONDO:0008945","Xref__c":"D002527"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3489626","Source__c":"C3489626","Xref__c":"C3489626"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=73495003","Source__c":"MONDO:0008945","Xref__c":"73495003"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008945","Source__c":"GARD:0009256","Xref__c":"MONDO:0008945"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:213400","Feature__r":{"HPO_Description__c":"Partial or complete wasting (loss) of dentate nucleus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007047","HPO_Name__c":"Atrophy of the dentate nucleus","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:213400","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"}},{"Provided_By__c":"OMIM:213400","Feature__r":{"HPO_Description__c":"Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001251","HPO_Synonym__c":"Cerebellar ataxia","HPO_Name__c":"Ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["cerebelloparenchymal disorder type 5"," cerebelloparenchymal disorder v"," cpd5"," dyssynergia cerebellaris myoclonica"," dyssynergia cerebellaris myoclonica of hunt"," myoclonus and ataxia"," progressive cerebellar tremor"," spinodentate atrophy"]}