{"Name":"Sarcotubular myopathy","DiseaseID__c":"GARD:0003844","id":3844,"encodedName":"sarcotubular-myopathy","IsDeleted":false,"Disease_Name_Full__c":"Sarcotubular myopathy","Xref_IDs__c":"43226001; C0270968; C535897; DOID:0110282; MEDGEN:78750; MONDO:0009683; OMIM:254110; ORPHA:1878","USA_Estimate__c":null,"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":null,"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:0009683","Disease_Description__c":"A mild subtype of autosomal recessive limb girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second or third decade of life. Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement.","GARD_Name__c":"Sarcotubular myopathy","GARD_Synonym__c":"autosomal recessive limb-girdle muscular dystrophy caused by mutation in trim32; autosomal recessive limb-girdle muscular dystrophy type 2h; hutterite type of muscular dystrophy; lgmd due to trim32 deficiency; lgmd type 2h; lgmd2h; lgmdr8; limb-girdle muscular dystrophy due to trim32 deficiency; limb-girdle muscular dystrophy type 2h; muscular dystrophy hutterite type; muscular dystrophy, limb-girdle, autosomal recessive 8; trim32 autosomal recessive limb-girdle muscular dystrophy; trim32-related lgmd r8; trim32-related limb-girdle muscular dystrophy r8","Curated_Disease_Description_Source__c":"MONDO:0009683","Curated_Disease_Description__c":"A mild subtype of autosomal recessive limb girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second or third decade of life. Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"from Childhood to Adulthood","SourceID__c":"ORPHA:1878","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009683","ORPHANET_ID__c":"ORPHA:1878","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Distrofia muscular de cinturas r8 asociada a trim32","Spanish_Description_Source__c":"ORPHA:1878","Spanish_Description__c":"Es un subtipo leve de distrofia muscular de cinturas autosómica recesiva caracterizada por debilidad muscular proximal de progresión lenta y una atrofia de la cintura pélvica y escapular con inicio, por lo general, en la segunda o la tercera década de vida. El cuadro clínico es variable y puede incluir pseudohipertrofia gemelar, contracturas articulares, escápula alada, calambres musculares y/o afectación de los músculos faciales y respiratorios.","Spanish_Disease_Name__c":"distrofia muscular de cinturas r8 asociada a trim32","Spanish_GARD_Synonym__c":"distrofia muscular de cinturas autosómica recesiva tipo 2h; distrofia muscular de cinturas por deficiencia de trim32; lgmd2h; miopatía sarcotubular","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 mild subtype of autosomal recessive limb girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second or third decade of life. Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement.","Curated_Disease_Description_Source__c":"MONDO:0009683","GARD_Synonym__c":"autosomal recessive limb-girdle muscular dystrophy caused by mutation in trim32; autosomal recessive limb-girdle muscular dystrophy type 2h; hutterite type of muscular dystrophy; lgmd due to trim32 deficiency; lgmd type 2h; lgmd2h; lgmdr8; limb-girdle muscular dystrophy due to trim32 deficiency; limb-girdle muscular dystrophy type 2h; muscular dystrophy hutterite type; muscular dystrophy, limb-girdle, autosomal recessive 8; trim32 autosomal recessive limb-girdle muscular dystrophy; trim32-related lgmd r8; trim32-related limb-girdle muscular dystrophy r8","Name":"Sarcotubular myopathy","estimateUsa":""}],"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":"Adolescent","Provided_By__c":"ORPHA:1878"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:1878"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:1878"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0270968"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0003844","Source__c":"RareSource"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=43226001","Source__c":"C0270968; MONDO:0009683","Xref__c":"43226001"},{"URL__c":"https://www.orpha.net/en/disease/detail/1878","Source__c":"C0270968; MONDO:0009683; ORPHA:1878","Xref__c":"ORPHA:1878"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=78750","Source__c":"C0270968","Xref__c":"MEDGEN:78750"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0270968","Source__c":"C0270968","Xref__c":"C0270968"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110282","Source__c":"MONDO:0009683","Xref__c":"DOID:0110282"},{"URL__c":"https://www.omim.org/entry/254110","Source__c":"C0270968; MONDO:0009683; ORPHA:1878","Xref__c":"OMIM:254110"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535897","Source__c":"MONDO:0009683","Xref__c":"C535897"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=240064008","Source__c":"C0270968","Xref__c":"240064008"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009683","Source__c":"GARD:0003844","Xref__c":"MONDO:0009683"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TRIM32","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1878","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":"ORPHA:1878","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"}},{"Provided_By__c":"ORPHA:1878","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A height above that which is expected according to age and sex norms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000098","HPO_Synonym__c":"Accelerated linear growth; Increased body height; Increased linear growth; Tall stature","HPO_Name__c":"Tall stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1878","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A lack of strength of the proximal muscles of the legs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008994","HPO_Synonym__c":"Muscle weakness, proximal, lower limbs; Proximal muscle weakness in lower limbs","HPO_Name__c":"Proximal lower limb muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1878","HPO_Frequency__c":"Very frequent (80-99%)","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:1878","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal results of investigations using electromyography (EMG).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003457","HPO_Synonym__c":"Abnormal electromyography finding; Abnormal EMG; Electromyogram abnormal; EMG abnormalities","HPO_Name__c":"EMG abnormality","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Procedure_EMG"}},{"Provided_By__c":"ORPHA:1878","HPO_Frequency__c":"Very frequent (80-99%)","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:1878","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A lack of facial expression often with staring eyes and a slightly open mouth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000298","HPO_Synonym__c":"Amimia; Expressionless face; Lack of facial expression; Mask-like facial appearance; Masklike facies","HPO_Name__c":"Mask-like facies","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1878","HPO_Frequency__c":"Very frequent (80-99%)","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"}}],"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 caused by mutation in trim32"," autosomal recessive limb-girdle muscular dystrophy type 2h"," hutterite type of muscular dystrophy"," lgmd due to trim32 deficiency"," lgmd type 2h"," lgmd2h"," lgmdr8"," limb-girdle muscular dystrophy due to trim32 deficiency"," limb-girdle muscular dystrophy type 2h"," muscular dystrophy hutterite type"," muscular dystrophy, limb-girdle, autosomal recessive 8"," trim32 autosomal recessive limb-girdle muscular dystrophy"," trim32-related lgmd r8"," trim32-related limb-girdle muscular dystrophy r8"]}