{"Name":"Congenital generalized hypercontractile muscle stiffness syndrome","DiseaseID__c":"GARD:0021956","id":21956,"encodedName":"congenital-generalized-hypercontractile-muscle-stiffness-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Congenital generalized hypercontractile muscle stiffness syndrome","Xref_IDs__c":"1174000008; C5567789; MEDGEN:1799212; MONDO:0018780; ORPHA:476406","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"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":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:476406","Disease_Description__c":"A rare defect of tropomyosin characterized by decreased fetal movements and generalized muscle stiffness at birth. Additional features include joint contractures, short stature, kyphosis, dysmorphic features, temperature dysregulation, and variably severe respiratory involvement with hypoxemia. Muscle biopsy shows mild myopathic features.","GARD_Name__c":"Congenital generalized hypercontractile muscle stiffness syndrome","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"ORPHA:476406","Curated_Disease_Description__c":"A rare defect of tropomyosin characterized by decreased fetal movements and generalized muscle stiffness at birth. Additional features include joint contractures, short stature, kyphosis, dysmorphic features, temperature dysregulation, and variably severe respiratory involvement with hypoxemia. Muscle biopsy shows mild myopathic features.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:476406","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018780","ORPHANET_ID__c":"ORPHA:476406","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de rigidez muscular hipercontractil congénito generalizado","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de rigidez muscular hipercontractil congénito generalizado","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 defect of tropomyosin characterized by decreased fetal movements and generalized muscle stiffness at birth. Additional features include joint contractures, short stature, kyphosis, dysmorphic features, temperature dysregulation, and variably severe respiratory involvement with hypoxemia. Muscle biopsy shows mild myopathic features.","Curated_Disease_Description_Source__c":"ORPHA:476406","Name":"Congenital generalized hypercontractile muscle stiffness syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Orthopedics","Tag_Category__c":"Specialist"},{"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":"Antenatal","Provided_By__c":"ORPHA:476406"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:476406"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/476406","Source__c":"C5567789; MONDO:0018780; ORPHA:476406","Xref__c":"ORPHA:476406"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5567789","Source__c":"C5567789","Xref__c":"C5567789"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1799212","Source__c":"C5567789","Xref__c":"MEDGEN:1799212"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018780","Source__c":"GARD:0021956","Xref__c":"MONDO:0018780"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1174000008","Source__c":"C5567789","Xref__c":"1174000008"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TPM3","GHR_URL__c":"https://medlineplus.gov/genetics/gene/tpm3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Orthopedics","Neuromuscular medicine","Pediatrics"]},"synonyms":[""]}