{"Name":"Autosomal recessive limb-girdle muscular dystrophy type 2A","DiseaseID__c":"GARD:0001057","id":1057,"encodedName":"autosomal-recessive-limb-girdle-muscular-dystrophy-type-2a","IsDeleted":false,"Disease_Name_Full__c":"Autosomal recessive limb-girdle muscular dystrophy type 2A","Xref_IDs__c":"715341003; C142079; C1869123; C535895; DOID:0110275; MEDGEN:358391; MONDO:0009675; OMIM:253600; ORPHA:267","USA_Estimate__c":"50,000","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":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0009675","Disease_Description__c":"A subtype of autosomal recessive limb girdle muscular dystrophy characterized by a variable age of onset of progressive, typically symmetrical and selective weakness and atrophy of proximal shoulder- and pelvic-girdle muscles (gluteus maximus, thigh adductors, and muscles of the posterior compartment of the limbs are most commonly affected) without cardiac or facial involvement. Clinical manifestations include exercise intolerance, a waddling gait, scapular winging and calf pseudo-hypertrophy.","GARD_Name__c":"Autosomal recessive limb-girdle muscular dystrophy type 2A","GARD_Synonym__c":"autosomal recessive limb girdle muscular dystrophy type 2a; autosomal recessive limb-girdle muscular dystrophy caused by mutation in capn3; calpain-3 deficiency limb girdle muscular dystrophy type 2a; calpain-3-related lgmd r1; calpain-3-related limb-girdle muscular dystrophy r1; calpainopathy; capn3 autosomal recessive limb-girdle muscular dystrophy; leyden-moebius muscular dystrophy; leyden-möbius muscular dystrophy; lgmd type 2a; lgmd2a; lgmdr1; limb-girdle muscular dystrophy due to calpain deficiency; limb-girdle muscular dystrophy type 2a; limb-girdle muscular dystrophy, type 2a; muscular dystrophy, limb-girdle, autosomal recessive 1; muscular dystrophy, limb-girdle, type 2a; muscular dystrophy, limb-girdle, type 2a, amish; muscular dystrophy, pelvofemoral; pelvofemoral muscular dystrophy; primary calpainopathy","Curated_Disease_Description_Source__c":"GARD:0001057","Curated_Disease_Description__c":"Calpain-3-related limb-girdle muscular dystrophy R1 (also known as LGMD2A) is an autosomal recessive limb-girdle muscular dystrophy characterized by progressive, symmetrical weakness of the proximal limb and girdle muscles (mainly those around the hips and shoulders) without heart involvement or intellectual disability. The condition is caused by genetic changes in the CAPN3 gene. LGMD2A is the most common form of limb-girdle muscular dystrophy, accounting for about 30 percent of cases. LGMD2A is also known as primary calpainopathy. Calpainopathies are diseases caused by genetic changes in the CAPN3 gene and can be autosomal recessive or autosomal dominant. Pelvifemoral limb-girdle muscular dystrophy (also known as Leyden-Mobius LGMD) is the most frequently observed subtype. In these cases, muscle weakness is first evident in the pelvic girdle and later in the shoulder girdle. In most cases, muscle weakness is first evident in the shoulder girdle and later in the pelvic girdle; HyperCKemia is usually observed in children or young individuals. In most cases, those affected do not have symptoms, just high levels of creatine kinase in their blood.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"from Childhood to Adulthood","SourceID__c":"ORPHA:267","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009675","ORPHANET_ID__c":"ORPHA:267","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Distrofia muscular de cinturas r1 asociada a calpaína 3","Spanish_Description_Source__c":"ORPHA:267","Spanish_Description__c":"Es un subtipo de distrofia muscular de cinturas autosómica recesiva con una edad de inicio variable y caracterizado por debilidad progresiva, típicamente simétrica y selectiva y atrofia de los músculos proximales de la cintura pélvica y escapular (el glúteo mayor, los aductores del muslo y los músculos del compartimento posterior de las extremidades son los más afectados) sin afectación cardíaca o facial. Las manifestaciones clínicas incluyen intolerancia al ejercicio, marcha anadeante, escápula alada y pseudo-hipertrofia gemelar.","Spanish_Disease_Name__c":"distrofia muscular de cinturas r1 asociada a calpaína 3","Spanish_GARD_Synonym__c":"calpainopatía primaria; distrofia muscular de cinturas autosómica recesiva tipo 2a; distrofia muscular de cinturas por deficiencia de calpaína; lgmd2a","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":"Calpain-3-related limb-girdle muscular dystrophy R1 (also known as LGMD2A) is an autosomal recessive limb-girdle muscular dystrophy characterized by progressive, symmetrical weakness of the proximal limb and girdle muscles (mainly those around the hips and shoulders) without heart involvement or intellectual disability. The condition is caused by genetic changes in the CAPN3 gene. LGMD2A is the most common form of limb-girdle muscular dystrophy, accounting for about 30 percent of cases. LGMD2A is also known as primary calpainopathy. Calpainopathies are diseases caused by genetic changes in the CAPN3 gene and can be autosomal recessive or autosomal dominant. Pelvifemoral limb-girdle muscular dystrophy (also known as Leyden-Mobius LGMD) is the most frequently observed subtype. In these cases, muscle weakness is first evident in the pelvic girdle and later in the shoulder girdle. In most cases, muscle weakness is first evident in the shoulder girdle and later in the pelvic girdle; HyperCKemia is usually observed in children or young individuals. In most cases, those affected do not have symptoms, just high levels of creatine kinase in their blood.","Curated_Disease_Description_Source__c":"GARD:0001057","GARD_Synonym__c":"autosomal recessive limb girdle muscular dystrophy type 2a; autosomal recessive limb-girdle muscular dystrophy caused by mutation in capn3; calpain-3 deficiency limb girdle muscular dystrophy type 2a; calpain-3-related lgmd r1; calpain-3-related limb-girdle muscular dystrophy r1; calpainopathy; capn3 autosomal recessive limb-girdle muscular dystrophy; leyden-moebius muscular dystrophy; leyden-möbius muscular dystrophy; lgmd type 2a; lgmd2a; lgmdr1; limb-girdle muscular dystrophy due to calpain deficiency; limb-girdle muscular dystrophy type 2a; limb-girdle muscular dystrophy, type 2a; muscular dystrophy, limb-girdle, autosomal recessive 1; muscular dystrophy, limb-girdle, type 2a; muscular dystrophy, limb-girdle, type 2a, amish; muscular dystrophy, pelvofemoral; pelvofemoral muscular dystrophy; primary calpainopathy","Name":"Autosomal recessive limb-girdle muscular dystrophy type 2A","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Muscular Dystrophy Canada","Website__c":"https://muscle.ca/"},{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"Asociación Distrofia Muscular para las Enfermedades Neuromusculares","Website__c":"https://adm.org.ar/newsite/"},{"Account_Name__c":"Asociación Madrileña de personas con Enfermedades Neuromusculares","Website__c":"http://www.asemmadrid.org/es/"},{"Account_Name__c":"Asociación de Distrofia Muscular de Puerto Rico","Website__c":"http://www.prmda.org/"},{"Account_Name__c":"Sociedad Mexicana de la Distrofia Muscular AC","Website__c":"http://smdm.inr.gob.mx"},{"Account_Name__c":"FUNDACIÓN ISABEL GEMIO para la Investigación de Distrofias Musculares y otras Enfermedades Raras","Website__c":"https://www.fundacionisabelgemio.com/"},{"Account_Name__c":"Muscular Dystrophy Family Foundation","Website__c":"https://mdff.org/"},{"Account_Name__c":"Muscular Dystrophy Association","Website__c":"https://www.mda.org"},{"Account_Name__c":"Muscular Dystrophy UK","Website__c":"https://www.musculardystrophyuk.org/"},{"Account_Name__c":"Coalition to Cure Calpain 3","Website__c":"https://www.curecalpain3.org/"},{"Account_Name__c":"Beyond Labels & Limitations, Inc.","Website__c":"https://beyondlabelslimitations.com/"}],"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:267"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:267"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:267"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1869123"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0001057","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1313","Source__c":"Gene Review","Xref__c":"NBK1313"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1869123","Source__c":"C1869123","Xref__c":"C1869123"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C142079","Source__c":"C1869123; MONDO:0009675","Xref__c":"C142079"},{"URL__c":"https://www.orpha.net/en/disease/detail/267","Source__c":"C1869123; MONDO:0009675; ORPHA:267","Xref__c":"ORPHA:267"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110275","Source__c":"MONDO:0009675","Xref__c":"DOID:0110275"},{"URL__c":"https://www.omim.org/entry/253600","Source__c":"C1869123; MONDO:0009675; ORPHA:267","Xref__c":"OMIM:253600"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=358391","Source__c":"C1869123","Xref__c":"MEDGEN:358391"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715341003","Source__c":"C1869123; MONDO:0009675","Xref__c":"715341003"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535895","Source__c":"MONDO:0009675","Xref__c":"C535895"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009675","Source__c":"GARD:0001057","Xref__c":"MONDO:0009675"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CAPN3","GHR_URL__c":"https://medlineplus.gov/genetics/gene/capn3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:267","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006466","HPO_Name__c":"Ankle flexion contracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:267","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Atrophy of the muscles of the pelvic girdle (also known as hip girdle), i.e., the gluteal muscles, the lateral rotators, the adductors, the psoas major and the iliacus muscle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008946","HPO_Synonym__c":"Hip girdle amyotrophy","HPO_Name__c":"Pelvic girdle amyotrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:267","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:267","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced ability to move the vertebral column with a resulting limitation of neck and trunk flexion.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003306","HPO_Synonym__c":"Reduced spine movement; Rigid spine","HPO_Name__c":"Spinal rigidity","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:267","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:267","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:267","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An elbow contracture that limits the ability of the elbow joint to be extended (straightened), meaning that the elbow is fixed in an flexed (bent) position.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002987","HPO_Synonym__c":"Elbow flexion contractures; Elbow flexion deformity; Fixed flexion at the elbow joint","HPO_Name__c":"Elbow flexion contracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:267","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001371","HPO_Synonym__c":"Flexed joint that cannot be straightened; Flexion contractures; Flexion contractures of joints","HPO_Name__c":"Flexion contracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:267","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A chronic loss of wrist joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the wrist.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001239","HPO_Synonym__c":"Wrist contracture; Wrist flexion deformity","HPO_Name__c":"Wrist flexion contracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:267","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Wasting of the pectoral muscles, i.e., of the pectoralis major and pectoralis minor. This finding is often manifested by prominent axillary creases or double axillary creases.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012037","HPO_Synonym__c":"Wasting of pec muscles","HPO_Name__c":"Pectoralis amyotrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:267","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:267","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Atrophy of the muscles that are responsible for moving the scapula, which are the levator scapulae, the infraspinatus muscle, the teres major, the teres minor, and the supraspinatus muscle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009060","HPO_Name__c":"Scapular muscle atrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:267","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Weakness of the muscles of the legs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007340","HPO_Synonym__c":"Leg weakness; Lower extremity weakness; Lower limb muscle weakness; Lower limb weakness; Muscle weakness in lower limbs","HPO_Name__c":"Lower limb muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:267","HPO_Frequency__c":"Very frequent (80-99%)","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; Muscle weakness, diffuse; Muscle weakness, generalized","HPO_Name__c":"Generalized muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:267","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Multiple bent (flexed) finger joints that cannot be straightened actively or passively.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005879","HPO_Synonym__c":"Congenital finger contractures","HPO_Name__c":"Congenital finger flexion contractures","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:267","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:267","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:267","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:267","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:267","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003089","HPO_Synonym__c":"Hamstring contractures","HPO_Name__c":"Hamstring contractures","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:267","HPO_Frequency__c":"Occasional (5-29%)","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"}}],"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 2a"," autosomal recessive limb-girdle muscular dystrophy caused by mutation in capn3"," calpain-3 deficiency limb girdle muscular dystrophy type 2a"," calpain-3-related lgmd r1"," calpain-3-related limb-girdle muscular dystrophy r1"," calpainopathy"," capn3 autosomal recessive limb-girdle muscular dystrophy"," leyden-moebius muscular dystrophy"," leyden-möbius muscular dystrophy"," lgmd type 2a"," lgmd2a"," lgmdr1"," limb-girdle muscular dystrophy due to calpain deficiency"," limb-girdle muscular dystrophy type 2a"," limb-girdle muscular dystrophy, type 2a"," muscular dystrophy, limb-girdle, autosomal recessive 1"," muscular dystrophy, limb-girdle, type 2a"," muscular dystrophy, limb-girdle, type 2a, amish"," muscular dystrophy, pelvofemoral"," pelvofemoral muscular dystrophy"," primary calpainopathy"],"spanishId":13365,"spanishName":"distrofia-muscular-de-cinturas-autosomica-recesiva-tipo-2a"}