{"Name":"Autosomal recessive limb-girdle muscular dystrophy type 2D","DiseaseID__c":"GARD:0000438","id":438,"encodedName":"autosomal-recessive-limb-girdle-muscular-dystrophy-type-2d","IsDeleted":false,"Disease_Name_Full__c":"Autosomal recessive limb-girdle muscular dystrophy type 2D","Xref_IDs__c":"715340002; C142081; C2936332; DOID:0110278; MEDGEN:424706; MONDO:0011968; OMIM:608099; ORPHA:62","USA_Estimate__c":"1,000","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":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0011968","Disease_Description__c":"A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by childhood onset of progressive proximal weakness of the shoulder and pelvic girdle muscles, resulting in difficulty walking, scapular winging, calf hypertrophy and contractures of the Achilles tendon, which lead to a tiptoe gait pattern. Cardiac and respiratory involvement is rare.","GARD_Name__c":"Autosomal recessive limb-girdle muscular dystrophy type 2D","GARD_Synonym__c":"adhalinopathy, primary; alpha-sarcoglycan-related lgmd r3; alpha-sarcoglycan-related limb-girdle muscular dystrophy r3; alpha-sarcoglycanopathy lgmd2d (limb girdle muscular dystrophy type 2d); autosomal recessive limb girdle muscular dystrophy type 2d; autosomal recessive limb-girdle muscular dystrophy caused by mutation in sgca; dmda2; duchenne-like autosomal recessive muscular dystrophy type 2; duchenne-like autosomal recessive muscular dystrophy, type 2; lgmd due to alpha-sarcoglycan deficiency; lgmd type 2d; lgmd2d; lgmdr3; limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency; limb-girdle muscular dystrophy type 2d; muscular dystrophy, limb-girdle, autosomal recessive 3; muscular dystrophy, limb-girdle, type 2d; primary adhalinopathy; sgca autosomal recessive limb-girdle muscular dystrophy","Curated_Disease_Description_Source__c":"MONDO:0011968","Curated_Disease_Description__c":"A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by childhood onset of progressive proximal weakness of the shoulder and pelvic girdle muscles, resulting in difficulty walking, scapular winging, calf hypertrophy and contractures of the Achilles tendon, which lead to a tiptoe gait pattern. Cardiac and respiratory involvement is rare.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child and as a Teenager","SourceID__c":"ORPHA:62","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011968","ORPHANET_ID__c":"ORPHA:62","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Distrofia muscular de cinturas r3 asociada a alfa-sarcoglicano","Spanish_Description_Source__c":"ORPHA:62","Spanish_Description__c":"Es un subtipo de distrofia muscular de cinturas autosómica recesiva de inicio en la infancia caracterizado por debilidad proximal progresiva de los músculos de la cintura pélvica y escapular, que resulta en dificultad para caminar, escápula alada, hipertrofia de la pantorrilla y contracturas del tendón de Aquiles que conducen a un patrón de marcha en puntillas. La afectación cardiorrespiratoria es infrecuente.","Spanish_Disease_Name__c":"distrofia muscular de cinturas r3 asociada a alfa-sarcoglicano","Spanish_GARD_Synonym__c":"alfa-sarcoglicocanopatía; distrofia muscular de cinturas autosómica recesiva tipo 2d; distrofia muscular de cinturas por deficiencia de alfa-sarcoglicano; lgmd2d","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 subtype of autosomal recessive limb-girdle muscular dystrophy characterized by childhood onset of progressive proximal weakness of the shoulder and pelvic girdle muscles, resulting in difficulty walking, scapular winging, calf hypertrophy and contractures of the Achilles tendon, which lead to a tiptoe gait pattern. Cardiac and respiratory involvement is rare.","Curated_Disease_Description_Source__c":"MONDO:0011968","GARD_Synonym__c":"adhalinopathy, primary; alpha-sarcoglycan-related lgmd r3; alpha-sarcoglycan-related limb-girdle muscular dystrophy r3; alpha-sarcoglycanopathy lgmd2d (limb girdle muscular dystrophy type 2d); autosomal recessive limb girdle muscular dystrophy type 2d; autosomal recessive limb-girdle muscular dystrophy caused by mutation in sgca; dmda2; duchenne-like autosomal recessive muscular dystrophy type 2; duchenne-like autosomal recessive muscular dystrophy, type 2; lgmd due to alpha-sarcoglycan deficiency; lgmd type 2d; lgmd2d; lgmdr3; limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency; limb-girdle muscular dystrophy type 2d; muscular dystrophy, limb-girdle, autosomal recessive 3; muscular dystrophy, limb-girdle, type 2d; primary adhalinopathy; sgca autosomal recessive limb-girdle muscular dystrophy","Name":"Autosomal recessive limb-girdle muscular dystrophy type 2D","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":"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:62"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:62"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C2936332"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0000438","Source__c":"RareSource"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C142081","Source__c":"C2936332; MONDO:0011968","Xref__c":"C142081"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=424706","Source__c":"C2936332","Xref__c":"MEDGEN:424706"},{"URL__c":"https://www.omim.org/entry/608099","Source__c":"C2936332; MONDO:0011968; ORPHA:62","Xref__c":"OMIM:608099"},{"URL__c":"https://www.orpha.net/en/disease/detail/62","Source__c":"C2936332; MONDO:0011968; ORPHA:62","Xref__c":"ORPHA:62"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110278","Source__c":"MONDO:0011968","Xref__c":"DOID:0110278"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715340002","Source__c":"C2936332; MONDO:0011968","Xref__c":"715340002"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2936332","Source__c":"C2936332","Xref__c":"C2936332"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011968","Source__c":"GARD:0000438","Xref__c":"MONDO:0011968"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SGCA","GHR_URL__c":"https://medlineplus.gov/genetics/gene/sgca","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:62","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003560","HPO_Name__c":"Muscular dystrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:62","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A contracture of the Achilles tendon.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001771","HPO_Synonym__c":"Achilles tendon contractures; Contractures of the Achilles tendon; Shortening of the achilles tendon; Tight achilles tendon","HPO_Name__c":"Achilles tendon contracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:62","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced ability to climb stairs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003551","HPO_Synonym__c":"Difficulty walking up stairs","HPO_Name__c":"Difficulty climbing stairs","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:62","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:62","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:62","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A lack of strength of the proximal muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003701","HPO_Synonym__c":"Muscle weakness, proximal; Proximal limb muscle weakness; Proximal limb weakness; Weakness in muscles of upper arms and upper legs","HPO_Name__c":"Proximal muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:62","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal gait pattern characterized by the failure of the heel to contact the floor at the onset of stance during gait.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030051","HPO_Synonym__c":"Tiptoe gait; Toe walking; Walking on tiptoes","HPO_Name__c":"Tip-toe gait","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:62","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:62","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002943","HPO_Name__c":"Thoracic scoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:62","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:62","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Enlargement of the muscles of the calf due to their replacement by connective tissue or fat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003707","HPO_Synonym__c":"Pseudohypertrophy of the calves","HPO_Name__c":"Calf muscle pseudohypertrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:62","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally increased curvature (anterior concavity) of the lumbar or cervical spine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003307","HPO_Synonym__c":"Lordosis; Prominent swayback","HPO_Name__c":"Hyperlordosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:62","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:62","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A limitation of the range of movement of the shoulder joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006467","HPO_Synonym__c":"Limited shoulder movement","HPO_Name__c":"Limited shoulder movement","Feature_System__c":"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":["adhalinopathy, primary"," alpha-sarcoglycan-related lgmd r3"," alpha-sarcoglycan-related limb-girdle muscular dystrophy r3"," alpha-sarcoglycanopathy lgmd2d (limb girdle muscular dystrophy type 2d)"," autosomal recessive limb girdle muscular dystrophy type 2d"," autosomal recessive limb-girdle muscular dystrophy caused by mutation in sgca"," dmda2"," duchenne-like autosomal recessive muscular dystrophy type 2"," duchenne-like autosomal recessive muscular dystrophy, type 2"," lgmd due to alpha-sarcoglycan deficiency"," lgmd type 2d"," lgmd2d"," lgmdr3"," limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency"," limb-girdle muscular dystrophy type 2d"," muscular dystrophy, limb-girdle, autosomal recessive 3"," muscular dystrophy, limb-girdle, type 2d"," primary adhalinopathy"," sgca autosomal recessive limb-girdle muscular dystrophy"]}