{"Name":"Polyglucosan body myopathy type 2","DiseaseID__c":"GARD:0017793","id":17793,"encodedName":"polyglucosan-body-myopathy-type-2","IsDeleted":false,"Disease_Name_Full__c":"Polyglucosan body myopathy type 2","Xref_IDs__c":"1228849007; C4015452; MEDGEN:863889; MONDO:0014526; OMIM:616199; ORPHA:456369","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":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":4,"Description_Source__c":"MONDO:0014526","Disease_Description__c":"Any polyglucosan body myopathy in which the cause of the disease is a mutation in the GYG1 gene.","GARD_Name__c":"Polyglucosan body myopathy type 2","GARD_Synonym__c":"gyg1 polyglucosan body myopathy; pgbm2 - polyglucosan body myopathy type 2; polyglucosan body myopathy caused by mutation in gyg1","Curated_Disease_Description_Source__c":"ORPHA:456369","Curated_Disease_Description__c":"A rare glycogen storage disease characterized by slowly progressive myopathy with storage of polyglucosan in muscle fibers. Age of onset ranges from childhood to late adulthood. Patients present proximal or proximodistal weakness predominantly of limb-girdle muscles. Variable features include exercise intolerance or myalgia. Serum creatine kinase is normal or mildly elevated. There is usually no overt cardiac involvement.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:456369","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014526","ORPHANET_ID__c":"ORPHA:456369","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Miopatía con cuerpos de poliglucosano tipo 2","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"miopatía con cuerpos de poliglucosano tipo 2","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:68367","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 glycogen storage disease characterized by slowly progressive myopathy with storage of polyglucosan in muscle fibers. Age of onset ranges from childhood to late adulthood. Patients present proximal or proximodistal weakness predominantly of limb-girdle muscles. Variable features include exercise intolerance or myalgia. Serum creatine kinase is normal or mildly elevated. There is usually no overt cardiac involvement.","Curated_Disease_Description_Source__c":"ORPHA:456369","GARD_Synonym__c":"gyg1 polyglucosan body myopathy; pgbm2 - polyglucosan body myopathy type 2; polyglucosan body myopathy caused by mutation in gyg1","Name":"Polyglucosan body myopathy type 2","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Association for Glycogen Storage Disease","Website__c":"https://www.agsdus.org"},{"Account_Name__c":"Association for Glycogen Storage Disease UK","Website__c":"https://www.agsd.org.uk/"},{"Account_Name__c":"The Children's Fund for Glycogen Storage Disease Research","Website__c":"https://www.curegsd.org/"},{"Account_Name__c":"Canadian Association for Glycogen Storage Disease","Website__c":"https://www.canadianagsd.org/"},{"Account_Name__c":"International Association for Muscle Glycogen Storage Disease","Website__c":"https://www.iamgsd.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":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"},{"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":"Childhood","Provided_By__c":"ORPHA:456369"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:456369"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:456369"},{"Age_At_Onset__c":"Elderly","Provided_By__c":"ORPHA:456369"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4015452","Source__c":"C4015452","Xref__c":"C4015452"},{"URL__c":"https://www.orpha.net/en/disease/detail/456369","Source__c":"C4015452; MONDO:0014526; ORPHA:456369","Xref__c":"ORPHA:456369"},{"URL__c":"https://www.omim.org/entry/616199","Source__c":"C4015452; MONDO:0014526; ORPHA:456369","Xref__c":"OMIM:616199"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=863889","Source__c":"C4015452","Xref__c":"MEDGEN:863889"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014526","Source__c":"GARD:0017793","Xref__c":"MONDO:0014526"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1228849007","Source__c":"C4015452","Xref__c":"1228849007"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GYG1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:616199","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The shoulder, or pectoral, girdle is composed of the clavicles and the scapulae. Shoulder-girdle weakness refers to lack of strength of the muscles attaching to these bones, that is, lack of strength of the muscles around the shoulders.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003547","HPO_Synonym__c":"Muscle weakness, shoulder-girdle; Shoulder girdle weakness; Shoulder weakness; Weak shoulder muscles","HPO_Name__c":"Shoulder girdle muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616199","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Atrophy of the muscles of the pelvic girdle (also known as hip girdle), i.e., the gluteal muscles, the lateral rotators, the adductors, the psoas major and the iliacus muscle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008946","HPO_Synonym__c":"Hip girdle amyotrophy","HPO_Name__c":"Pelvic girdle amyotrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616199","Feature__r":{"HPO_Description__c":"Weakness of the limb-girdle muscles (also known as the pelvic and shoulder girdles), that is, lack of strength of the muscles around the shoulders and the pelvis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003325","HPO_Synonym__c":"Limb girdle weakness; Muscle weakness, limb-girdle; Muscular weakness, limb-girdle","HPO_Name__c":"Limb-girdle muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616199","HPO_Frequency__c":"Occasional (5-29%)","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:616199","HPO_Frequency__c":"Occasional (5-29%)","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"}},{"Provided_By__c":"OMIM:616199","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced strength of the musculature of the hand.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030237","HPO_Synonym__c":"Hand muscle weakness","HPO_Name__c":"Hand muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616199","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Weakness of the peroneal muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011727","HPO_Synonym__c":"Fibularis muscle weakness","HPO_Name__c":"Peroneal muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616199","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Weakness of the muscles of the pelvic girdle (also known as the hip girdle), that is, lack of strength of the muscles around the pelvis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003749","HPO_Synonym__c":"Hip girdle muscle weakness; Hip girdle weakness; Hip-girdle muscle weakness; Pelvic girdle weakness","HPO_Name__c":"Pelvic girdle muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616199","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Fine, rapid twitching of individual muscle fibers with little or no movement of the muscle as a whole as ascertained by electromyography (EMG). If a motor neuron or its axon is destroyed, the muscle fibers it innervates undergo denervation atrophy. This leads to hypersensitivity of individual muscle fibers to acetyl choline so that they may contract spontaneously. Isolated activity of individual muscle fibers is generally so fine it cannot be seen through the intact skin, although it can be recorded as a short-duration spike in the EMG.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010546","HPO_Synonym__c":"EMG: fibrillations on electromyogram","HPO_Name__c":"Muscle fibrillation","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616199","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Accumulation of a poorly branched and poorly spherical amylopectin-like glycogen (polyglucosan) in muscle fibers.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034766","HPO_Synonym__c":"Muscle biopsy: polyglucosan accumulation","HPO_Name__c":"Muscle fiber polyglucosan inclusion bodies","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:616199","Feature__r":{"HPO_Description__c":"The term gait disturbance can refer to any disruption of the ability to walk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001288","HPO_Synonym__c":"Abnormal gait; Abnormal walk; Difficulty in walking; Gait abnormalities; Gait difficulties; Gait disturbances; Impaired gait; Walking disability","HPO_Name__c":"Gait disturbance","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616199","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100299","HPO_Name__c":"Muscle fiber inclusion bodies","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"]},"synonyms":["gyg1 polyglucosan body myopathy"," pgbm2 - polyglucosan body myopathy type 2"," polyglucosan body myopathy caused by mutation in gyg1"]}