{"Name":"Autosomal recessive limb-girdle muscular dystrophy type 2J","DiseaseID__c":"GARD:0012534","id":12534,"encodedName":"autosomal-recessive-limb-girdle-muscular-dystrophy-type-2j","IsDeleted":false,"Disease_Name_Full__c":"Autosomal recessive limb-girdle muscular dystrophy type 2J","Xref_IDs__c":"C1837342; C563854; DOID:0110283; MEDGEN:324741; MONDO:0012127; OMIM:608807; ORPHA:140922","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":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0012127","Disease_Description__c":"A form of limb-girdle muscular dystrophy that usually has a childhood onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset.","GARD_Name__c":"Autosomal recessive limb-girdle muscular dystrophy type 2J","GARD_Synonym__c":"autosomal recessive limb girdle muscular dystrophy type 2j; autosomal recessive limb-girdle muscular dystrophy caused by mutation in ttn; lgmd type 2j; lgmd2j; lgmdr10; limb-girdle muscular dystrophy 2j titin gene mutation; limb-girdle muscular dystrophy type 2j; limb-girdle muscular dystrophy, type 2j; muscular dystrophy, limb-girdle, autosomal recessive 10; muscular dystrophy, limb-girdle, type 2j; titin-related lgmd r10; titin-related limb-girdle muscular dystrophy r10; ttn autosomal recessive limb-girdle muscular dystrophy","Curated_Disease_Description_Source__c":"MONDO:0012127","Curated_Disease_Description__c":"A form of limb-girdle muscular dystrophy that usually has a childhood onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"from Childhood to Adulthood","SourceID__c":"ORPHA:140922","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012127","ORPHANET_ID__c":"ORPHA:140922","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Distrofia muscular de cinturas r10 asociada a titina","Spanish_Description_Source__c":"ORPHA:140922","Spanish_Description__c":"Es una forma de distrofia muscular de cinturas que, por lo habitual, se presenta en la infancia (aunque el inicio puede oscilar de la primera a la tercera década de vida) con una debilidad proximal grave progresiva, que puede terminar afectando también a los músculos distales. Algunos afectados mantienen la deambulación aunque la mayoría dependen de una silla de ruedas 20 años después de las primeras manifestaciones.","Spanish_Disease_Name__c":"distrofia muscular de cinturas r10 asociada a titina","Spanish_GARD_Synonym__c":"distrofia muscular de cinturas autosómica recesiva tipo 2j; lgmd2j","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 form of limb-girdle muscular dystrophy that usually has a childhood onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset.","Curated_Disease_Description_Source__c":"MONDO:0012127","GARD_Synonym__c":"autosomal recessive limb girdle muscular dystrophy type 2j; autosomal recessive limb-girdle muscular dystrophy caused by mutation in ttn; lgmd type 2j; lgmd2j; lgmdr10; limb-girdle muscular dystrophy 2j titin gene mutation; limb-girdle muscular dystrophy type 2j; limb-girdle muscular dystrophy, type 2j; muscular dystrophy, limb-girdle, autosomal recessive 10; muscular dystrophy, limb-girdle, type 2j; titin-related lgmd r10; titin-related limb-girdle muscular dystrophy r10; ttn autosomal recessive limb-girdle muscular dystrophy","Name":"Autosomal recessive limb-girdle muscular dystrophy type 2J","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Team Titin","Website__c":"https://titinmyopathy.com/"},{"Account_Name__c":"Muscular Dystrophy Canada","Website__c":"https://muscle.ca/"},{"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":"Muscular Dystrophy","Tag_Category__c":"Account;Disease Category","category_description":"Muscular dystrophy refers to a group of inherited disorders that cause muscles to gradually weaken and break down.","curated_tag_name":"Muscular dystrophy"},{"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":"Adolescent","Provided_By__c":"ORPHA:140922"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:140922"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:140922"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1837342"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/608807","Source__c":"C1837342; MONDO:0012127; ORPHA:140922","Xref__c":"OMIM:608807"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1837342","Source__c":"C1837342","Xref__c":"C1837342"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=324741","Source__c":"C1837342","Xref__c":"MEDGEN:324741"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563854","Source__c":"MONDO:0012127","Xref__c":"C563854"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110283","Source__c":"MONDO:0012127","Xref__c":"DOID:0110283"},{"URL__c":"https://www.orpha.net/en/disease/detail/140922","Source__c":"C1837342; MONDO:0012127; ORPHA:140922","Xref__c":"ORPHA:140922"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=725042001","Source__c":"C1837342","Xref__c":"725042001"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012127","Source__c":"GARD:0012534","Xref__c":"MONDO:0012127"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TTN","GHR_URL__c":"https://medlineplus.gov/genetics/gene/ttn","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:608807","Feature__r":{"HPO_Description__c":"The presence of skeletal muscular atrophy (which is also known as amyotrophy).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003202","HPO_Synonym__c":"Amyotrophy; Amyotrophy involving the extremities; Muscle atrophy; Muscle atrophy, neurogenic; Muscle degeneration; Muscle hypotrophy; Muscle wasting; Muscular atrophy; Neurogenic muscle atrophy; Neurogenic muscle atrophy, especially in the lower limbs; Neurogenic muscular atrophy","HPO_Name__c":"Skeletal muscle atrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608807","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced ability to climb stairs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003551","HPO_Synonym__c":"Difficulty walking up stairs","HPO_Name__c":"Difficulty climbing stairs","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608807","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A lack of strength of the proximal muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003701","HPO_Synonym__c":"Muscle weakness, proximal; Proximal limb muscle weakness; Proximal limb weakness; Weakness in muscles of upper arms and upper legs","HPO_Name__c":"Proximal muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608807","Feature__r":{"HPO_Description__c":"The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003560","HPO_Name__c":"Muscular dystrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608807","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Muscle fibers degeneration resulting in fatty replacement of skeletal muscle fibers","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012548","HPO_Synonym__c":"Skeletal muscle fatty infiltration","HPO_Name__c":"Fatty replacement of skeletal muscle","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608807","Feature__r":{"HPO_Description__c":"The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003458","HPO_Synonym__c":"EMG: myopathic changes; EMG: myopathy; Myopathic electromyogram","HPO_Name__c":"EMG: myopathic abnormalities","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Procedure_EMG"}},{"Provided_By__c":"OMIM:608807","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":"OMIM:608807","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003557","HPO_Synonym__c":"Increased fiber size variation; Increased variability in muscle fiber size; Increased variation in fiber size; Increased variation in muscle fiber size; Variation in muscle fiber size","HPO_Name__c":"Increased variability in muscle fiber diameter","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608807","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003236","HPO_Synonym__c":"Elevated blood creatine phosphokinase; Elevated circulating creatine phosphokinase; Elevated creatine kinase; Elevated serum CPK; Elevated serum creatine kinase; Elevated serum creatine phosphokinase; High serum creatine kinase; Increased CPK; Increased creatine kinase; Increased creatine phosphokinase; Increased serum CK; Increased serum creatine kinase; Increased serum creatine phosphokinase","HPO_Name__c":"Elevated circulating creatine kinase concentration","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Muscular Dystrophy"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"Account":["Muscular Dystrophy"]},"synonyms":["autosomal recessive limb girdle muscular dystrophy type 2j"," autosomal recessive limb-girdle muscular dystrophy caused by mutation in ttn"," lgmd type 2j"," lgmd2j"," lgmdr10"," limb-girdle muscular dystrophy 2j titin gene mutation"," limb-girdle muscular dystrophy type 2j"," limb-girdle muscular dystrophy, type 2j"," muscular dystrophy, limb-girdle, autosomal recessive 10"," muscular dystrophy, limb-girdle, type 2j"," titin-related lgmd r10"," titin-related limb-girdle muscular dystrophy r10"," ttn autosomal recessive limb-girdle muscular dystrophy"]}