{"Name":"Autosomal recessive limb-girdle muscular dystrophy type 2F","DiseaseID__c":"GARD:0008573","id":8573,"encodedName":"autosomal-recessive-limb-girdle-muscular-dystrophy-type-2f","IsDeleted":false,"Disease_Name_Full__c":"Autosomal recessive limb-girdle muscular dystrophy type 2F","Xref_IDs__c":"718177001; C1832525; C535896; DOID:0110280; MEDGEN:331308; MONDO:0011028; OMIM:601287; ORPHA:219","USA_Estimate__c":"5,000","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":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0011028","Disease_Description__c":"A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable age of onset of progressive weakness and wasting of the proximal skeletal muscles of the shoulder and pelvic girdles, frequently associated with progressive respiratory muscle impairment and cardiomyopathy. Calf hypertrophy, muscle cramps and elevated serum creatine kinase levels are also observed. Neuropsychomotor development is usually normal.","GARD_Name__c":"Autosomal recessive limb-girdle muscular dystrophy type 2F","GARD_Synonym__c":"autosomal recessive limb girdle muscular dystrophy type 2f; autosomal recessive limb-girdle muscular dystrophy caused by mutation in sgcd; delta-sarcoglycan-related lgmd r6; delta-sarcoglycan-related limb-girdle muscular dystrophy r6; lgmd due to delta-sarcoglycan deficiency; lgmd type 2f; lgmd2f; lgmdr6; limb girdle muscular dystrophy due to delta-sarcoglycan deficiency; limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency; limb-girdle muscular dystrophy type 2f; muscular dystrophy limb-girdle with delta-sarcoglyan deficiency; muscular dystrophy, limb-girdle, autosomal recessive 6; sgcd autosomal recessive limb-girdle muscular dystrophy","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 is a type of muscle disease that affects the muscles in the shoulder and pelvic area. It is caused by a genetic mutation that is passed down from parents to their children. Symptoms can vary and may include muscle weakness and wasting, difficulty breathing, and heart problems. Some people with this condition may also experience calf hypertrophy (enlarged calf muscles), muscle cramps, and elevated levels of a substance called creatine kinase in their blood. People with this condition typically have normal development and cognitive function.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:219","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011028","ORPHANET_ID__c":"ORPHA:219","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Distrofia muscular de cinturas r6 asociada a delta-sarcoglicano","Spanish_Description_Source__c":"ORPHA:219","Spanish_Description__c":"Es un subtipo de distrofia muscular de cinturas autosómica recesiva de edad variable de inicio caracterizado por debilidad progresiva y atrofia de los músculos esqueléticos proximales de la cintura pélvica y escapular, y frecuentemente asociado con deterioro progresivo de los músculos respiratorios y miocardiopatía. También se observa hipertrofia gemelar, calambres musculares y elevación de los niveles séricos de creatinquinasa. El desarrollo neuropsicomotor suele ser normal.","Spanish_Disease_Name__c":"distrofia muscular de cinturas r6 asociada a delta-sarcoglicano","Spanish_GARD_Synonym__c":"delta-sarcoglicocanopatía; distrofia muscular de cinturas autosómica recesiva tipo 2f; distrofia muscular de cinturas por deficiencia de delta-sarcoglicano; lgmd2f","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":"Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 is a type of muscle disease that affects the muscles in the shoulder and pelvic area. It is caused by a genetic mutation that is passed down from parents to their children. Symptoms can vary and may include muscle weakness and wasting, difficulty breathing, and heart problems. Some people with this condition may also experience calf hypertrophy (enlarged calf muscles), muscle cramps, and elevated levels of a substance called creatine kinase in their blood. People with this condition typically have normal development and cognitive function.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"autosomal recessive limb girdle muscular dystrophy type 2f; autosomal recessive limb-girdle muscular dystrophy caused by mutation in sgcd; delta-sarcoglycan-related lgmd r6; delta-sarcoglycan-related limb-girdle muscular dystrophy r6; lgmd due to delta-sarcoglycan deficiency; lgmd type 2f; lgmd2f; lgmdr6; limb girdle muscular dystrophy due to delta-sarcoglycan deficiency; limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency; limb-girdle muscular dystrophy type 2f; muscular dystrophy limb-girdle with delta-sarcoglyan deficiency; muscular dystrophy, limb-girdle, autosomal recessive 6; sgcd autosomal recessive limb-girdle muscular dystrophy","Name":"Autosomal recessive limb-girdle muscular dystrophy type 2F","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"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":"Cardiology","Tag_Category__c":"Specialist"},{"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":"Cardiomyopathy","Tag_Category__c":"Account","curated_tag_name":"Cardiomyopathy"},{"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:219"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0008573","Source__c":"RareSource"},{"URL__c":"https://www.omim.org/entry/601287","Source__c":"C1832525; MONDO:0011028; ORPHA:219","Xref__c":"OMIM:601287"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535896","Source__c":"MONDO:0011028","Xref__c":"C535896"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110280","Source__c":"MONDO:0011028","Xref__c":"DOID:0110280"},{"URL__c":"https://www.orpha.net/en/disease/detail/219","Source__c":"C1832525; MONDO:0011028; ORPHA:219","Xref__c":"ORPHA:219"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1832525","Source__c":"C1832525","Xref__c":"C1832525"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=718177001","Source__c":"C1832525; MONDO:0011028","Xref__c":"718177001"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=331308","Source__c":"C1832525","Xref__c":"MEDGEN:331308"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011028","Source__c":"GARD:0008573","Xref__c":"MONDO:0011028"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SGCD","GHR_URL__c":"https://medlineplus.gov/genetics/gene/sgcd","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:219","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of gait (walking) characterized by by dragging one's feet along or without lifting the feet fully from the ground.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002362","HPO_Synonym__c":"Shuffled walk","HPO_Name__c":"Shuffling gait","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:219","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Generalized (unlocalized) atrophy affecting muscles of the limbs in both proximal and distal locations.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009055","HPO_Synonym__c":"Generalized muscle atrophy, proximal and distal; Generalized muscle wasting","HPO_Name__c":"Generalized limb muscle atrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:219","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal protrusion of the scapula away from the surface of the back.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003691","HPO_Synonym__c":"Scapula alata; Winged scapulae; Winged scapulas; Winged shoulder blade","HPO_Name__c":"Scapular winging","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:219","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Muscular atrophy affecting proximally located muscles of the legs, i.e., of the thigh.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008956","HPO_Synonym__c":"Amyotrophy involving the thigh; Amyotrophy of the thigh musculature; Proximal lower limb muscle atrophy; Thigh muscle atrophy; Wasting of thigh muscle","HPO_Name__c":"Proximal lower limb amyotrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:219","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Muscular atrophy affecting proximally located muscles of the arms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008948","HPO_Synonym__c":"Proximal muscle atrophy in upper limbs; Proximal upper limb muscle atrophy","HPO_Name__c":"Proximal upper limb amyotrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:219","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010628","HPO_Synonym__c":"Bell's palsy; Cranial nerve VII palsy; Facial nerve palsy; Facial nerve paralysis; Facial palsy, unilateral or bilateral; Seventh cranial nerve palsy; VII th cranial nerve palsy","HPO_Name__c":"Facial palsy","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Muscular Dystrophy"],"Specialist":["Genetics","Cardiology","Neurology","Neuromuscular medicine","Pediatrics"],"Account":["Muscular Dystrophy","Cardiomyopathy"]},"synonyms":["autosomal recessive limb girdle muscular dystrophy type 2f"," autosomal recessive limb-girdle muscular dystrophy caused by mutation in sgcd"," delta-sarcoglycan-related lgmd r6"," delta-sarcoglycan-related limb-girdle muscular dystrophy r6"," lgmd due to delta-sarcoglycan deficiency"," lgmd type 2f"," lgmd2f"," lgmdr6"," limb girdle muscular dystrophy due to delta-sarcoglycan deficiency"," limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency"," limb-girdle muscular dystrophy type 2f"," muscular dystrophy limb-girdle with delta-sarcoglyan deficiency"," muscular dystrophy, limb-girdle, autosomal recessive 6"," sgcd autosomal recessive limb-girdle muscular dystrophy"]}