{"Name":"Myasthenia, limb-girdle, autoimmune","DiseaseID__c":"GARD:0008575","id":8575,"encodedName":"myasthenia-limb-girdle-autoimmune","IsDeleted":false,"Disease_Name_Full__c":"Myasthenia, limb-girdle, autoimmune","Xref_IDs__c":"C1834635; C563552; MEDGEN:331795; MONDO:0008036; OMIM:159400","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":0,"Disease_Characteristics_Score__c":2,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MEDGEN:C1834635","Disease_Description__c":null,"GARD_Name__c":"Myasthenia, limb-girdle, autoimmune","GARD_Synonym__c":"myasthenia gravis, limb-girdle","Curated_Disease_Description_Source__c":"MEDGEN:C1834635","Curated_Disease_Description__c":null,"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:0008036","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_Source__c":"MEDGEN:C1834635","GARD_Synonym__c":"myasthenia gravis, limb-girdle","Name":"Myasthenia, limb-girdle, autoimmune","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Autoimmune Association","Website__c":"https://autoimmune.org/"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1834635"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1834635","Source__c":"C1834635","Xref__c":"C1834635"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=331795","Source__c":"C1834635","Xref__c":"MEDGEN:331795"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563552","Source__c":"MONDO:0008036","Xref__c":"C563552"},{"URL__c":"https://www.omim.org/entry/159400","Source__c":"C1834635; MONDO:0008036","Xref__c":"OMIM:159400"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008036","Source__c":"GARD:0008575","Xref__c":"MONDO:0008036"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:159400","Feature__r":{"HPO_Description__c":"An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumor).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002664","HPO_Synonym__c":"Neoplasia; Oncological abnormality; Tumor; Tumour","HPO_Name__c":"Neoplasm","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:159400","Feature__r":{"HPO_Description__c":"The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000508","HPO_Synonym__c":"Blepharoptosis; Drooping upper eyelid; Eyelid ptosis; Palpebral ptosis","HPO_Name__c":"Ptosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:159400","Feature__r":{"HPO_Description__c":"A tumor originating from the epithelial cells of the thymus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100522","HPO_Name__c":"Thymoma","Feature_System__c":"Endocrine System; Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:159400","Feature__r":{"HPO_Description__c":"A compound muscle action potential (CMAP) is a type of electromyography (EMG). CMAP refers to a group of almost simultaneous action potentials from several muscle fibers in the same area evoked by stimulation of the supplying motor nerve and are recorded as one multipeaked summated action potential. This abnormality refers to a greater than normal decrease in the amplitude during the course of the investigation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003403","HPO_Synonym__c":"EMG: decremental response of CMAP to repetitive nerve stimulation","HPO_Name__c":"EMG: decremental response of compound muscle action potential to repetitive nerve stimulation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Procedure_EMG"}},{"Provided_By__c":"OMIM:159400","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008180","HPO_Synonym__c":"Mildly elevated CPK; Mildly elevated creatine phosphokinase; Mildly elevated serum CK; Mildly elevated serum CPK; Mildly elevated serum phospho-CK; Mildly increased creatine kinase; Mildly increased serum creatine kinase; Moderately elevated serum CK; Moderately elevated serum CPK; Moderately increased serum creatine kinase","HPO_Name__c":"Mildly elevated creatine kinase","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:159400","Feature__r":{"HPO_Description__c":"Amyotrophy (muscular atrophy) affecting the proximal musculature.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007126","HPO_Synonym__c":"Muscle atrophy, proximal; Proximal muscle atrophy; Proximal muscle wasting; Symmetric proximal muscular atrophy; Symmetrical, proximal limb muscle atrophy; Wasting of muscles near the body","HPO_Name__c":"Proximal amyotrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:159400","Feature__r":{"HPO_Description__c":"A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002725","HPO_Synonym__c":"SLE","HPO_Name__c":"Systemic lupus erythematosus","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:159400","Feature__r":{"HPO_Description__c":"A type of weakness that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003473","HPO_Synonym__c":"Fatigable weakness of limb muscles; Generalized muscle weakness due to defect at the neuromuscular junction; Myasthenia; Myasthenic weakness; Proximal muscle weakness due to defect at the neuromuscular junction","HPO_Name__c":"Fatigable weakness","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:159400","Feature__r":{"HPO_Description__c":"Atrophy (wasting) affecting primary type 2 muscle fibers. This feature in general can only be observed on muscle biopsy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003554","HPO_Synonym__c":"Type 2 fiber atrophy","HPO_Name__c":"Type 2 muscle fiber atrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:159400","Feature__r":{"HPO_Description__c":"A chronic, autoimmune type of thyroiditis associated with hypothyroidism.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000872","HPO_Synonym__c":"Chronic lymphocytic thyroiditis; Hashimoto's thyroiditis","HPO_Name__c":"Hashimoto thyroiditis","Feature_System__c":"Endocrine System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:159400","Feature__r":{"HPO_Description__c":"Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000597","HPO_Synonym__c":"Extraocular muscle palsy; Extraocular muscle paralysis; Weakness of extraocular eye movement; Weakness of muscles controlling eye movement","HPO_Name__c":"Ophthalmoparesis","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["myasthenia gravis, limb-girdle"]}