{"Name":"Autosomal recessive limb-girdle muscular dystrophy type 2E","DiseaseID__c":"GARD:0003851","id":3851,"encodedName":"autosomal-recessive-limb-girdle-muscular-dystrophy-type-2e","IsDeleted":false,"Disease_Name_Full__c":"Autosomal recessive limb-girdle muscular dystrophy type 2E","Xref_IDs__c":"718850008; C180849; C1858593; DOID:0110279; MEDGEN:347674; MONDO:0011423; OMIM:604286; ORPHA:119","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":2,"Description_Source__c":"MONDO:0011423","Disease_Description__c":"A subtype of autosomal recessive limb girdle muscular dystrophy characterized by a childhood to adolescent onset of progressive pelvic- and shoulder-girdle muscle weakness, particularly affecting the pelvic girdle (adductors and flexors of hip). Usually the knees are the earliest and most affected muscles. In advanced stages, involvement of the shoulder girdle (resulting in scapular winging) and the distal muscle groups are observed. Calf hypertrophy, cardiomyopathy, respiratory impairment, tendon contractures, scoliosis, and exercise-induced myoglobinuria may be observed.","GARD_Name__c":"Autosomal recessive limb-girdle muscular dystrophy type 2E","GARD_Synonym__c":"autosomal recessive limb girdle muscular dystrophy type 2e; autosomal recessive limb-girdle muscular dystrophy caused by mutation in sgcb; beta-sarcoglycan-related lgmd r4; beta-sarcoglycan-related limb-girdle muscular dystrophy r4; lgmd due to beta-sarcoglycan deficiency; lgmd type 2e; lgmd2e; lgmdr4; limb girdle muscular dystrophy due to beta-sarcoglycan deficiency; limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency; limb-girdle muscular dystrophy type 2e; muscular dystrophy, limb-girdle, autosomal recessive 4; muscular dystrophy, limb-girdle, type 2e; sgcb autosomal recessive limb-girdle muscular dystrophy","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 is a type of muscular dystrophy that affects the muscles in the pelvic and shoulder girdles, particularly the pelvic girdle. It usually starts in childhood or adolescence and causes progressive muscle weakness. The knees are usually the earliest and most affected muscles. In advanced stages, the shoulder girdle is also affected, resulting in scapular winging (shoulder blades protrude in abnormal positions), and the distal muscle groups like those of the hands and feet may also be involved. Other symptoms may include calf hypertrophy (enlarged calf muscles), cardiomyopathy (heart muscle disease), respiratory impairment (difficulty breathing), tendon contractures (stiff joints), scoliosis (curvature of the spine), and exercise-induced myoglobinuria (muscle pain and weakness after exercise).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"as a Child and as a Teenager","SourceID__c":"ORPHA:119","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011423","ORPHANET_ID__c":"ORPHA:119","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Distrofia muscular de cinturas r4 asociada a beta-sarcoglicano","Spanish_Description_Source__c":"ORPHA:119","Spanish_Description__c":"Es un subtipo de distrofia muscular de cinturas autosómica recesiva de inicio en la infancia o adolescencia y caracterizado por un debilitamiento progresivo de la cintura pélvica y escapular, que afecta particularmente a la cintura pélvica (aductores y flexores de la cadera). Por lo general, la musculatura de las rodillas es la más afectada y más tempranamente. En estadíos avanzados, se observa una afectación de la cintura escapular (que resulta en escápula alada) y se pueden observar los grupos de músculos distales. También puede observarse hipertrofia de la pantorrilla, cardiomiopatía, afectación respiratoria, contracturas tendinosas, escoliosis y mioglobinuria inducida por ejercicio.","Spanish_Disease_Name__c":"distrofia muscular de cinturas r4 asociada a beta-sarcoglicano","Spanish_GARD_Synonym__c":"beta-sarcoglicocanopatía; distrofia muscular de cinturas autosómica recesiva tipo 2e; distrofia muscular de cinturas por deficiencia de beta-sarcoglicano; lgmd2e","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":"Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 is a type of muscular dystrophy that affects the muscles in the pelvic and shoulder girdles, particularly the pelvic girdle. It usually starts in childhood or adolescence and causes progressive muscle weakness. The knees are usually the earliest and most affected muscles. In advanced stages, the shoulder girdle is also affected, resulting in scapular winging (shoulder blades protrude in abnormal positions), and the distal muscle groups like those of the hands and feet may also be involved. Other symptoms may include calf hypertrophy (enlarged calf muscles), cardiomyopathy (heart muscle disease), respiratory impairment (difficulty breathing), tendon contractures (stiff joints), scoliosis (curvature of the spine), and exercise-induced myoglobinuria (muscle pain and weakness after exercise).","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"autosomal recessive limb girdle muscular dystrophy type 2e; autosomal recessive limb-girdle muscular dystrophy caused by mutation in sgcb; beta-sarcoglycan-related lgmd r4; beta-sarcoglycan-related limb-girdle muscular dystrophy r4; lgmd due to beta-sarcoglycan deficiency; lgmd type 2e; lgmd2e; lgmdr4; limb girdle muscular dystrophy due to beta-sarcoglycan deficiency; limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency; limb-girdle muscular dystrophy type 2e; muscular dystrophy, limb-girdle, autosomal recessive 4; muscular dystrophy, limb-girdle, type 2e; sgcb autosomal recessive limb-girdle muscular dystrophy","Name":"Autosomal recessive limb-girdle muscular dystrophy type 2E","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":"Adolescent","Provided_By__c":"ORPHA:119"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:119"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0003851","Source__c":"RareSource"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110279","Source__c":"MONDO:0011423","Xref__c":"DOID:0110279"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1858593","Source__c":"C1858593","Xref__c":"C1858593"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=718850008","Source__c":"C1858593; MONDO:0011423","Xref__c":"718850008"},{"URL__c":"https://www.orpha.net/en/disease/detail/119","Source__c":"C1858593; MONDO:0011423; ORPHA:119","Xref__c":"ORPHA:119"},{"URL__c":"https://www.omim.org/entry/604286","Source__c":"C1858593; MONDO:0011423; ORPHA:119","Xref__c":"OMIM:604286"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=347674","Source__c":"C1858593","Xref__c":"MEDGEN:347674"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011423","Source__c":"GARD:0003851","Xref__c":"MONDO:0011423"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C180849","Source__c":"C1858593","Xref__c":"C180849"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SGCB","GHR_URL__c":"https://medlineplus.gov/genetics/gene/sgcb","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:119","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002136","HPO_Synonym__c":"Broad based gait; Wide based gait; Wide based walk; Wide-based gait","HPO_Name__c":"Broad-based gait","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:119","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Presence of myoglobin in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002913","HPO_Name__c":"Myoglobinuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:119","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:119","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:119","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002515","HPO_Synonym__c":"Waddling gait; Waddling walk","HPO_Name__c":"Waddling gait","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:119","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001638","HPO_Synonym__c":"Disease of the heart muscle","HPO_Name__c":"Cardiomyopathy","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:119","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:119","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:119","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A phenomenon whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003391","HPO_Synonym__c":"Gower sign; Positive Gower sign; Positive Gowers sign","HPO_Name__c":"Gowers sign","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:119","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003198","HPO_Synonym__c":"Muscle tissue disease; Myopathic changes","HPO_Name__c":"Myopathy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:119","HPO_Frequency__c":"Frequent (30-79%)","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"}},{"Provided_By__c":"ORPHA:119","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A facial appearance characteristic of myopathic conditions. The face appears expressionless with sunken cheeks, bilateral ptosis, and inability to elevate the corners of the mouth, due to muscle weakness.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002058","HPO_Synonym__c":"Myopathic face; Myopathic facial appearance","HPO_Name__c":"Myopathic facies","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:119","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A degree of language development that is significantly below the norm for a child of a specified age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000750","HPO_Synonym__c":"Deficiency of speech development; Delayed language development; Delayed speech; Delayed speech acquisition; Delayed speech and language development; Delayed speech development; Impaired speech and language development; Impaired speech development; Language delay; Language delayed; Language development deficit; Late-onset speech development; Poor language development; Speech and language delay; Speech and language difficulties; Speech delay","HPO_Name__c":"Delayed speech and language development","Feature_System__c":"Nervous 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 2e"," autosomal recessive limb-girdle muscular dystrophy caused by mutation in sgcb"," beta-sarcoglycan-related lgmd r4"," beta-sarcoglycan-related limb-girdle muscular dystrophy r4"," lgmd due to beta-sarcoglycan deficiency"," lgmd type 2e"," lgmd2e"," lgmdr4"," limb girdle muscular dystrophy due to beta-sarcoglycan deficiency"," limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency"," limb-girdle muscular dystrophy type 2e"," muscular dystrophy, limb-girdle, autosomal recessive 4"," muscular dystrophy, limb-girdle, type 2e"," sgcb autosomal recessive limb-girdle muscular dystrophy"]}