{"Name":"Autosomal recessive limb-girdle muscular dystrophy type 2Q","DiseaseID__c":"GARD:0012542","id":12542,"encodedName":"autosomal-recessive-limb-girdle-muscular-dystrophy-type-2q","IsDeleted":false,"Disease_Name_Full__c":"Autosomal recessive limb-girdle muscular dystrophy type 2Q","Xref_IDs__c":"C3150989; DOID:0110285; MEDGEN:462339; MONDO:0013390; OMIM:613723; ORPHA:254361","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":1,"Description_Source__c":"MONDO:0013390","Disease_Description__c":"A form of limb-girdle muscular dystrophy characterized by proximal muscle weakness presenting in early childhood (with occasional falls and difficulties in climbing stairs) and a progressive course resulting in loss of ambulation in early adulthood. Muscle atrophy and multiple contractures have also been reported in rare cases.","GARD_Name__c":"Autosomal recessive limb-girdle muscular dystrophy type 2Q","GARD_Synonym__c":"autosomal recessive limb girdle muscular dystrophy type 2q; autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency; lgmd type 2q; lgmd2q; lgmdr17; limb-girdle muscular dystrophy type 2q; muscular dystrophy, limb-girdle, autosomal recessive 17; muscular dystrophy, limb-girdle, type 2q; plectin-related lgmd r17; plectin-related limb-girdle muscular dystrophy r17","Curated_Disease_Description_Source__c":"MONDO:0013390","Curated_Disease_Description__c":"A form of limb-girdle muscular dystrophy characterized by proximal muscle weakness presenting in early childhood (with occasional falls and difficulties in climbing stairs) and a progressive course resulting in loss of ambulation in early adulthood. Muscle atrophy and multiple contractures have also been reported in rare cases.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:254361","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013390","ORPHANET_ID__c":"ORPHA:254361","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Distrofia muscular de cinturas r17 asociada a plectina","Spanish_Description_Source__c":"ORPHA:254361","Spanish_Description__c":"Es una forma de distrofia muscular de cinturas caracterizada por debilidad muscular proximal que se presenta en la infancia temprana (con caídas ocasionales y dificultades para subir escaleras) y un curso progresivo que resulta en una pérdida de la marcha en la edad adulta temprana. También se ha descrito atrofia muscular y múltiples contracturas en raras ocasiones.","Spanish_Disease_Name__c":"distrofia muscular de cinturas r17 asociada a plectina","Spanish_GARD_Synonym__c":"distrofia muscular de cinturas autosómica recesiva por deficiencia de plectina; distrofia muscular de cinturas autosómica recesiva tipo 2q; lgmd2q","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 characterized by proximal muscle weakness presenting in early childhood (with occasional falls and difficulties in climbing stairs) and a progressive course resulting in loss of ambulation in early adulthood. Muscle atrophy and multiple contractures have also been reported in rare cases.","Curated_Disease_Description_Source__c":"MONDO:0013390","GARD_Synonym__c":"autosomal recessive limb girdle muscular dystrophy type 2q; autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency; lgmd type 2q; lgmd2q; lgmdr17; limb-girdle muscular dystrophy type 2q; muscular dystrophy, limb-girdle, autosomal recessive 17; muscular dystrophy, limb-girdle, type 2q; plectin-related lgmd r17; plectin-related limb-girdle muscular dystrophy r17","Name":"Autosomal recessive limb-girdle muscular dystrophy type 2Q","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"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":"Childhood","Provided_By__c":"ORPHA:254361"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C3150989"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=462339","Source__c":"C3150989","Xref__c":"MEDGEN:462339"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110285","Source__c":"MONDO:0013390","Xref__c":"DOID:0110285"},{"URL__c":"https://www.omim.org/entry/613723","Source__c":"C3150989; MONDO:0013390; ORPHA:254361","Xref__c":"OMIM:613723"},{"URL__c":"https://www.orpha.net/en/disease/detail/254361","Source__c":"C3150989; MONDO:0013390; ORPHA:254361","Xref__c":"ORPHA:254361"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3150989","Source__c":"C3150989","Xref__c":"C3150989"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=726615005","Source__c":"C3150989","Xref__c":"726615005"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013390","Source__c":"GARD:0012542","Xref__c":"MONDO:0013390"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PLEC","GHR_URL__c":"https://medlineplus.gov/genetics/gene/plec","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:254361","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003324","HPO_Synonym__c":"Generalized weakness; 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This manifests as a prolongation of the QRS complex (greater than 0.12 s) with delayed activation of the right ventricle and terminal delay on the EKG.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011712","HPO_Synonym__c":"Right bundle branch block; Right bundle-branch block","HPO_Name__c":"Complete right bundle branch block","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:254361","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Perceived difficulty to breathe that occurs with exercise or exertion and improves with rest.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002875","HPO_Synonym__c":"Exertional breathlessness; Shortness of breathing upon physical activity","HPO_Name__c":"Exertional dyspnea","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:254361","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001488","HPO_Synonym__c":"Drooping of both upper eyelids","HPO_Name__c":"Bilateral ptosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:254361","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Replacement of normal lung tissues by fibroblasts and collagen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002206","HPO_Synonym__c":"Pulmonary scarring","HPO_Name__c":"Pulmonary fibrosis","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:254361","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002194","HPO_Synonym__c":"Delayed attainment of gross motor milestones; 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This term should only be used to describe children younger than five years of age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001263","HPO_Synonym__c":"Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; GDD; Lack of psychomotor development; Motor and developmental delay; Motormental retardation; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development","HPO_Name__c":"Global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:254361","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002359","HPO_Synonym__c":"Frequent falls","HPO_Name__c":"Frequent falls","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:254361","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Two-sided or bilateral weakness of the muscles of facial expression and eye closure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0430025","HPO_Synonym__c":"Bilateral facial muscle paralysis; 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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":"ORPHA:254361","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004631","HPO_Synonym__c":"Contracture of post-cervical muscles","HPO_Name__c":"Decreased cervical spine flexion due to contractures of posterior cervical muscles","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:254361","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002086","HPO_Synonym__c":"Respiratory abnormality","HPO_Name__c":"Abnormality of the respiratory system","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:254361","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Muscle hypertrophy affecting the calf muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008981","HPO_Synonym__c":"Calf hypertrophy; Increased size of calf muscles; Muscular hypertrophy of the calf muscles","HPO_Name__c":"Calf muscle hypertrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"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 2q"," autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency"," lgmd type 2q"," lgmd2q"," lgmdr17"," limb-girdle muscular dystrophy type 2q"," muscular dystrophy, limb-girdle, autosomal recessive 17"," muscular dystrophy, limb-girdle, type 2q"," plectin-related lgmd r17"," plectin-related limb-girdle muscular dystrophy r17"]}