{"Name":"Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome","DiseaseID__c":"GARD:0018922","id":18922,"encodedName":"spinal-muscular-atrophy-dandy-walker-malformation-cataracts-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome","Xref_IDs__c":"C4509964; MEDGEN:1393821; MONDO:0019132; ORPHA:73245","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":1,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:73245","Disease_Description__c":"A rare neurologic disease characterized by bilateral cataract, Dandy-Walker malformation, and childhood onset of distal spinal muscular atrophy. Patients present with progressively deteriorating symmetrical distal muscle weakness and atrophy of the lower limbs (and, to a much lesser degree, also the upper limbs) and decreased tendon reflexes in the lower and upper limbs.","GARD_Name__c":"Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome","GARD_Synonym__c":"spinal muscular atrophy, dandy-walker malformation, cataract syndrome","Curated_Disease_Description_Source__c":"ORPHA:73245","Curated_Disease_Description__c":"A rare neurologic disease characterized by bilateral cataract, Dandy-Walker malformation, and childhood onset of distal spinal muscular atrophy. Patients present with progressively deteriorating symmetrical distal muscle weakness and atrophy of the lower limbs (and, to a much lesser degree, also the upper limbs) and decreased tendon reflexes in the lower and upper limbs.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:73245","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019132","ORPHANET_ID__c":"ORPHA:73245","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de atrofia muscular espinal-malformación de dandy-walker-cataratas","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de atrofia muscular espinal-malformación de dandy-walker-cataratas","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 bilateral cataract, Dandy-Walker malformation, and childhood onset of distal spinal muscular atrophy. Patients present with progressively deteriorating symmetrical distal muscle weakness and atrophy of the lower limbs (and, to a much lesser degree, also the upper limbs) and decreased tendon reflexes in the lower and upper limbs.","Curated_Disease_Description_Source__c":"ORPHA:73245","GARD_Synonym__c":"spinal muscular atrophy, dandy-walker malformation, cataract syndrome","Name":"Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Dandy-Walker Alliance, Inc.","Website__c":"https://dandy-walker.org/"},{"Account_Name__c":"Muscular Dystrophy Canada","Website__c":"https://muscle.ca/"}],"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":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"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":"Neonatal","Provided_By__c":"ORPHA:73245"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:73245"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/73245","Source__c":"C4509964; MONDO:0019132; ORPHA:73245","Xref__c":"ORPHA:73245"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1393821","Source__c":"C4509964","Xref__c":"MEDGEN:1393821"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4509964","Source__c":"C4509964","Xref__c":"C4509964"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=723612001","Source__c":"C4509964","Xref__c":"723612001"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019132","Source__c":"GARD:0018922","Xref__c":"MONDO:0019132"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:73245","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Evidence of chronic denervation on electromyography.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003444","HPO_Name__c":"EMG: chronic denervation signs","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Procedure_EMG"}},{"Provided_By__c":"ORPHA:73245","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Muscular atrophy of distal leg muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008944","HPO_Synonym__c":"Lower leg amyotrophy; Lower limb degeneration; Muscle atrophy, lower limb, distal","HPO_Name__c":"Distal lower limb amyotrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:73245","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the vermis of cerebellum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001320","HPO_Synonym__c":"Cerebellar vermal hypoplasia; Hypoplasia of the cerebellar vermis; Hypoplastic cerebellar vermis","HPO_Name__c":"Cerebellar vermis hypoplasia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:73245","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increase in size of the cisterna magna, one of three principal openings in the subarachnoid space between the arachnoid and pia mater, located between the cerebellum and the dorsal surface of the medulla oblongata.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002280","HPO_Synonym__c":"Large cisterna magna","HPO_Name__c":"Enlarged cisterna magna","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:73245","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000518","HPO_Synonym__c":"Cataracts; Clouding of the lens of the eye; Cloudy lens; Lens opacities; Lens opacity","HPO_Name__c":"Cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:73245","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced strength of the musculature of the distal extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002460","HPO_Synonym__c":"Distal limb muscle weakness; Distal limb weakness; Distal muscular weakness; Distal paresis; Muscle weakness, distal; Muscle weakness, distal limbs, due to neuronopathy; Weakness of distal muscles; Weakness of outermost muscles","HPO_Name__c":"Distal muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:73245","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001305","HPO_Synonym__c":"Dandy-walker anomaly; Dandy-Walker cyst","HPO_Name__c":"Dandy-Walker malformation","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"]},"synonyms":["spinal muscular atrophy, dandy-walker malformation, cataract syndrome"]}