{"Name":"Autosomal recessive limb-girdle muscular dystrophy type 2N","DiseaseID__c":"GARD:0012539","id":12539,"encodedName":"autosomal-recessive-limb-girdle-muscular-dystrophy-type-2n","IsDeleted":false,"Disease_Name_Full__c":"Autosomal recessive limb-girdle muscular dystrophy type 2N","Xref_IDs__c":"C3150418; DOID:0110298; MEDGEN:461768; MONDO:0013162; OMIM:613158; ORPHA:206559","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":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0013162","Disease_Description__c":"A form of limb-girdle muscular dystrophy characterized by proximal weakness (manifesting as slowness in running) presenting in infancy, along with calf hypertrophy, mild lordosis, scapular winging and normal intelligence (or mild intellectual disability).","GARD_Name__c":"Autosomal recessive limb-girdle muscular dystrophy type 2N","GARD_Synonym__c":"autosomal recessive limb girdle muscular dystrophy type 2n; autosomal recessive limb-girdle muscular dystrophy caused by mutation in pomt2; lgmd type 2n; lgmd-pomt2 related; lgmd2n; limb-girdle muscular dystrophy type 2n; mddgc2; muscular dystrophy-dystroglycanopathy (limb-girdle) type c 2; muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 2; muscular dystrophy-dystroglycanopathy limb-girdle pomt2-related; muscular dystrophy-dystroglycanopathy, limb-girdle, pomt2-related; pomt2 autosomal recessive limb-girdle muscular dystrophy; pomt2-related lgmd r14; pomt2-related limb-girdle muscular dystrophy r14","Curated_Disease_Description_Source__c":"MONDO:0013162","Curated_Disease_Description__c":"A form of limb-girdle muscular dystrophy characterized by proximal weakness (manifesting as slowness in running) presenting in infancy, along with calf hypertrophy, mild lordosis, scapular winging and normal intelligence (or mild intellectual disability).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant","SourceID__c":"ORPHA:206559","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013162","ORPHANET_ID__c":"ORPHA:206559","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Distrofia muscular de cinturas r14 asociada a pomt2","Spanish_Description_Source__c":"ORPHA:206559","Spanish_Description__c":"Es una forma de distrofia muscular de cinturas caracterizada por debilidad proximal (manifestándose en lentitud al correr) que se presenta en la infancia, junto con hipertrofia de los gemelos, lordosis leve, escápulas aladas e inteligencia normal (o leve discapacidad intelectual).","Spanish_Disease_Name__c":"distrofia muscular de cinturas r14 asociada a pomt2","Spanish_GARD_Synonym__c":"distrofia muscular de cinturas autosómica recesiva tipo 2n; lgmd2n","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 weakness (manifesting as slowness in running) presenting in infancy, along with calf hypertrophy, mild lordosis, scapular winging and normal intelligence (or mild intellectual disability).","Curated_Disease_Description_Source__c":"MONDO:0013162","GARD_Synonym__c":"autosomal recessive limb girdle muscular dystrophy type 2n; autosomal recessive limb-girdle muscular dystrophy caused by mutation in pomt2; lgmd type 2n; lgmd-pomt2 related; lgmd2n; limb-girdle muscular dystrophy type 2n; mddgc2; muscular dystrophy-dystroglycanopathy (limb-girdle) type c 2; muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 2; muscular dystrophy-dystroglycanopathy limb-girdle pomt2-related; muscular dystrophy-dystroglycanopathy, limb-girdle, pomt2-related; pomt2 autosomal recessive limb-girdle muscular dystrophy; pomt2-related lgmd r14; pomt2-related limb-girdle muscular dystrophy r14","Name":"Autosomal recessive limb-girdle muscular dystrophy type 2N","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":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic 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":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"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":"Infancy","Provided_By__c":"ORPHA:206559"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C3150418"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110298","Source__c":"MONDO:0013162","Xref__c":"DOID:0110298"},{"URL__c":"https://www.omim.org/entry/613158","Source__c":"C3150418; MONDO:0013162; ORPHA:206559","Xref__c":"OMIM:613158"},{"URL__c":"https://www.orpha.net/en/disease/detail/206559","Source__c":"C3150418; MONDO:0013162; ORPHA:206559","Xref__c":"ORPHA:206559"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=461768","Source__c":"C3150418","Xref__c":"MEDGEN:461768"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3150418","Source__c":"C3150418","Xref__c":"C3150418"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=726617002","Source__c":"C3150418","Xref__c":"726617002"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013162","Source__c":"GARD:0012539","Xref__c":"MONDO:0013162"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"POMT2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/pomt2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:206559","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Incapability to ambulate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002540","HPO_Synonym__c":"Inability to walk; Non-ambulatory","HPO_Name__c":"Inability to walk","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:206559","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:206559","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001328","HPO_Name__c":"Specific learning disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:206559","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:206559","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001644","HPO_Synonym__c":"Cardiomyopathy, dilated; Congestive cardiomyopathy; DCM; Stretched and thinned heart muscle","HPO_Name__c":"Dilated cardiomyopathy","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:206559","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A conduction block of the right branch of the bundle of His. 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:206559","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Amyotrophy (muscular atrophy) affecting the proximal musculature.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007126","HPO_Synonym__c":"Muscle atrophy, proximal; Proximal muscle atrophy; Proximal muscle wasting; Symmetric proximal muscular atrophy; Symmetrical, proximal limb muscle atrophy; Wasting of muscles near the body","HPO_Name__c":"Proximal amyotrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:206559","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100543","HPO_Synonym__c":"Abnormality of cognition; Cognitive abnormality; Cognitive defects; Cognitive deficits; Cognitive impairment; Intellectual impairment","HPO_Name__c":"Cognitive impairment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:206559","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An increase in size of the ventricular system of the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002119","HPO_Synonym__c":"Cerebral ventricular dilatation; Dilated cerebral ventricle; Dilated cerebral ventricles; Dilated ventricles; Enlarged cerebral ventricles; Enlarged ventricles; Enlarged ventricular system; Large cerebral ventricles and cisternae; Ventricular dilatation","HPO_Name__c":"Ventriculomegaly","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:206559","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Immunohistochemistry reveals reduced alpha dystroglycan protein in the muscle biopsy. Alpha-dystroglycan is a heavily glycosylated peripheral-membrane component of the dystrophin-associated glycoprotein complex (DAPC), which, in addition to laminin alpha2, binds perlecan and agrin in the extracellular matrix, whereas beta-dystroglycan, derived from the same gene, is a transmembrane protein that links to dystrophin intracellularly.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030099","HPO_Name__c":"Reduced muscle fiber alpha dystroglycan","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:206559","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:206559","HPO_Frequency__c":"Occasional (5-29%)","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:206559","HPO_Frequency__c":"Frequent (30-79%)","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; Delayed attainment of gross motor skills; Delayed development of gross motor milestones; Delayed development of gross motor skills; Delayed gross motor milestones; Delayed gross motor skills; Delayed motor skills; Developmental delay, gross motor; Gross motor delay; Limited gross motor development; Limited gross motor skills","HPO_Name__c":"Delayed gross motor development","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:206559","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Atrophy of the frontal cortex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006913","HPO_Synonym__c":"Frontal cortex degeneration","HPO_Name__c":"Frontal cortical atrophy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:206559","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Muscular atrophy in the distribution of shoulder girdle and peroneal muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003697","HPO_Synonym__c":"Scapuloperoneal atrophy","HPO_Name__c":"Scapuloperoneal amyotrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:206559","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. 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:206559","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Muscular dystrophy affecting the muscles of the limb girdle (the hips and shoulders).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006785","HPO_Synonym__c":"limb girdle muscular dystrophy","HPO_Name__c":"Limb-girdle muscular dystrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:206559","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"}},{"Provided_By__c":"ORPHA:206559","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormality of left ventricular contraction, often defined operationally as an ejection fraction of less than 40 percent.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025169","HPO_Name__c":"Left ventricular systolic dysfunction","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:206559","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of weakness of skeletal muscle that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030197","HPO_Name__c":"Fatigable weakness of skeletal muscles","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism","Muscular Dystrophy"],"Specialist":["Genetics","Neurology","Neurodevelopmental disabilities","Neuromuscular medicine","Pediatrics"],"Account":["Muscular Dystrophy"]},"synonyms":["autosomal recessive limb girdle muscular dystrophy type 2n"," autosomal recessive limb-girdle muscular dystrophy caused by mutation in pomt2"," lgmd type 2n"," lgmd-pomt2 related"," lgmd2n"," limb-girdle muscular dystrophy type 2n"," mddgc2"," muscular dystrophy-dystroglycanopathy (limb-girdle) type c 2"," muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 2"," muscular dystrophy-dystroglycanopathy limb-girdle pomt2-related"," muscular dystrophy-dystroglycanopathy, limb-girdle, pomt2-related"," pomt2 autosomal recessive limb-girdle muscular dystrophy"," pomt2-related lgmd r14"," pomt2-related limb-girdle muscular dystrophy r14"]}