{"Name":"Rippling muscle disease 1","DiseaseID__c":"GARD:0009165","id":9165,"encodedName":"rippling-muscle-disease-1","IsDeleted":false,"Disease_Name_Full__c":"Rippling muscle disease 1","Xref_IDs__c":"C1838254; DOID:0070308; MEDGEN:324987; MONDO:0010868; OMIM:600332","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":"OMIM:600332","Disease_Description__c":"For a phenotypic description and a discussion of genetic heterogeneity of rippling muscle disease, see RMD2 ({606072}).","GARD_Name__c":"Rippling muscle disease 1","GARD_Synonym__c":"rippling muscle disease-1; rmd1","Curated_Disease_Description_Source__c":"OMIM:600332","Curated_Disease_Description__c":"Rippling muscle disease 1 (RMD1) is an autosomal dominant disorder characterized by mechanically triggered contractions of skeletal muscle. In rippling muscle disease, mechanical stimulation leads to electrically silent muscle contractions that spread to neighboring fibers that cause visible ripples to move over the muscle. The mutation causing RMD1 maps to chromosome 1q41.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:600332","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010868","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":"Rippling muscle disease 1 (RMD1) is an autosomal dominant disorder characterized by mechanically triggered contractions of skeletal muscle. In rippling muscle disease, mechanical stimulation leads to electrically silent muscle contractions that spread to neighboring fibers that cause visible ripples to move over the muscle. The mutation causing RMD1 maps to chromosome 1q41.","Curated_Disease_Description_Source__c":"OMIM:600332","GARD_Synonym__c":"rippling muscle disease-1; rmd1","Name":"Rippling muscle disease 1","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Muscular Dystrophy Canada","Website__c":"https://muscle.ca/"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009165","Source__c":"RareSource"},{"URL__c":"https://www.omim.org/entry/600332","Source__c":"C1838254; MONDO:0010868","Xref__c":"OMIM:600332"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=324987","Source__c":"C1838254","Xref__c":"MEDGEN:324987"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1838254","Source__c":"C1838254","Xref__c":"C1838254"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070308","Source__c":"MONDO:0010868","Xref__c":"DOID:0070308"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010868","Source__c":"GARD:0009165","Xref__c":"MONDO:0010868"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:600332","Feature__r":{"HPO_Description__c":"Percussion-induced, local prolonged contractions (mounding) in muscle persisting for several seconds.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003719","HPO_Name__c":"Muscle mounding","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600332","Feature__r":{"HPO_Description__c":"Abnormal increase in muscle size and mass not due to training.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003712","HPO_Synonym__c":"Hypertrophic muscles; Increased skeletal muscle cells; Muscle hypertrophy; Muscular hypertrophy","HPO_Name__c":"Skeletal muscle hypertrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600332","Feature__r":{"HPO_Description__c":"Abnormal results of investigations using electromyography (EMG).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003457","HPO_Synonym__c":"Abnormal electromyography finding; Abnormal EMG; Electromyogram abnormal; EMG abnormalities","HPO_Name__c":"EMG abnormality","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Procedure_EMG"}},{"Provided_By__c":"OMIM:600332","Feature__r":{"HPO_Description__c":"A type of muscle stiffness that occurs following physical exertion.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008967","HPO_Synonym__c":"Exercise-induced muscle stiffness; Muscle stiffness with exercise; Muscle stiffness, exercise-induced","HPO_Name__c":"Exercise-induced muscle stiffness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600332","Feature__r":{"HPO_Description__c":"Mechanical percussion (i.e., striking a muscle with a reflex hammer) leads to spreading waves of muscle contractions that begin proximally and spread laterally across the muscle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003760","HPO_Name__c":"Percussion-induced rapid rolling muscle contractions","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600332","Feature__r":{"HPO_Description__c":"Sudden and involuntary contractions of one or more muscles brought on by physical exertion.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003710","HPO_Synonym__c":"Exercise-induced muscle cramping; Exercise-induced muscle cramps; Muscle cramps following exercise; Muscle cramps on exercise; Muscle cramps on exertion; Muscle cramps with exertion","HPO_Name__c":"Exercise-induced muscle cramps","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600332","Feature__r":{"HPO_Description__c":"The occurrence of an unusually high amount of muscle pain following exercise.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003738","HPO_Synonym__c":"Exercise-induced muscle pain; Muscle pain on exercise; Muscle pain with exercise; Muscle pain, exercise-induced","HPO_Name__c":"Exercise-induced myalgia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600332","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003559","HPO_Name__c":"Muscle hyperirritability","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["rippling muscle disease-1"," rmd1"]}