{"Name":"Cylindrical spirals myopathy","DiseaseID__c":"GARD:0011906","id":11906,"encodedName":"cylindrical-spirals-myopathy","IsDeleted":false,"Disease_Name_Full__c":"Cylindrical spirals myopathy","Xref_IDs__c":"764525006; C1834418; C563535; DOID:0080103; MEDGEN:371817; MONDO:0008058; OMIM:160990; ORPHA:171886","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":1,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0008058","Disease_Description__c":"Cylindrical spirals myopathy is a rare form of congenital myopathy characterized by global muscle weakness, hypotonia, myotonia and cramps in the presence of cylindrical, spiral-shaped inclusions (located in the central and/or subsacrolemmal areas of muscle fibers) in skeletal muscle biopsy. Abnormal gait, scoliosis, epileptic encephalopathy and psychomotor delay may be associated.","GARD_Name__c":"Cylindrical spirals myopathy","GARD_Synonym__c":"myotonic myopathy with cylindrical spirals","Curated_Disease_Description_Source__c":"MONDO:0008058","Curated_Disease_Description__c":"Cylindrical spirals myopathy is a rare form of congenital myopathy characterized by global muscle weakness, hypotonia, myotonia and cramps in the presence of cylindrical, spiral-shaped inclusions (located in the central and/or subsacrolemmal areas of muscle fibers) in skeletal muscle biopsy. Abnormal gait, scoliosis, epileptic encephalopathy and psychomotor delay may be associated.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:171886","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008058","ORPHANET_ID__c":"ORPHA:171886","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Miopatía con espirales cilindricas","Spanish_Description_Source__c":"ORPHA:171886","Spanish_Description__c":"La miopatía con espirales cilíndricas es una forma de miopatía congénita poco frecuente, caracterizada por debilidad muscular generalizada, hipotonía, miotonía y calambres en presencia de inclusiones cilíndricas en forma de espiral (ubicadas en las áreas centrales y/o subsarcolémicas de las fibras musculares) en biopsias de músculo esquelético. También pueden estar asociadas marcha anómala, escoliosis, encefalopatía epiléptica y retraso psicomotor.","Spanish_Disease_Name__c":"miopatía con espirales cilindricas","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":"Cylindrical spirals myopathy is a rare form of congenital myopathy characterized by global muscle weakness, hypotonia, myotonia and cramps in the presence of cylindrical, spiral-shaped inclusions (located in the central and/or subsacrolemmal areas of muscle fibers) in skeletal muscle biopsy. Abnormal gait, scoliosis, epileptic encephalopathy and psychomotor delay may be associated.","Curated_Disease_Description_Source__c":"MONDO:0008058","GARD_Synonym__c":"myotonic myopathy with cylindrical spirals","Name":"Cylindrical spirals myopathy","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Muscular Dystrophy Family Foundation","Website__c":"https://mdff.org/"},{"Account_Name__c":"Muscular Dystrophy Association","Website__c":"https://www.mda.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":"Neuromuscular medicine","Tag_Category__c":"Specialist","curated_tag_name":"Neuromuscular medicine"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=764525006","Source__c":"MONDO:0008058","Xref__c":"764525006"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1834418","Source__c":"C1834418","Xref__c":"C1834418"},{"URL__c":"https://www.orpha.net/en/disease/detail/171886","Source__c":"C1834418; MONDO:0008058","Xref__c":"ORPHA:171886"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=371817","Source__c":"C1834418","Xref__c":"MEDGEN:371817"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563535","Source__c":"MONDO:0008058","Xref__c":"C563535"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080103","Source__c":"MONDO:0008058","Xref__c":"DOID:0080103"},{"URL__c":"https://www.omim.org/entry/160990","Source__c":"C1834418; MONDO:0008058","Xref__c":"OMIM:160990"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008058","Source__c":"GARD:0011906","Xref__c":"MONDO:0008058"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine"]},"synonyms":["myotonic myopathy with cylindrical spirals"]}