{"Name":"Autosomal recessive limb-girdle muscular dystrophy type 2I","DiseaseID__c":"GARD:0012533","id":12533,"encodedName":"autosomal-recessive-limb-girdle-muscular-dystrophy-type-2i","IsDeleted":false,"Disease_Name_Full__c":"Autosomal recessive limb-girdle muscular dystrophy type 2I","Xref_IDs__c":"718180000; C126739; C1846672; C564612; DOID:0110299; MEDGEN:339580; MONDO:0011787; OMIM:607155; ORPHA:34515","USA_Estimate__c":"5,000","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":"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":7,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0011787","Disease_Description__c":"A form of autosomal recessive limb-girdle muscular dystrophy that presents a highly variable age of onset and phenotypic spectrum typically characterized by slowly progressive proximal weakness of the pelvic and shoulder girdle musculature (predominantly affecting the lower limbs), frequently associated with waddling gait, scapular winging, calf and tongue hypertrophy, exercise-induced myalgia, abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement, and myoglobinuria and/or elevated creatine kinase serum levels.","GARD_Name__c":"Autosomal recessive limb-girdle muscular dystrophy type 2I","GARD_Synonym__c":"autosomal recessive limb girdle muscular dystrophy type 2i; autosomal recessive limb-girdle muscular dystrophy caused by mutation in fkrp; fkrp autosomal recessive limb-girdle muscular dystrophy; fkrp-related lgmd r9; fkrp-related limb-girdle muscular dystrophy r9; lgmd due to fkrp deficiency; lgmd type 2i; lgmd-fkrp related; lgmd2i; limb girdle muscular dystrophy due to deficiency of fukutin related protein; limb-girdle muscular dystrophy due to fkrp deficiency; limb-girdle muscular dystrophy type 2i; mddgc5; muscular dystrophy limb-girdle type 2i; muscular dystrophy-dystroglycanopathy (limb-girdle) type c 5; muscular dystrophy-dystroglycanopathy (limb-girdle) type c, 5; muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 5; muscular dystrophy-dystroglycanopathy (limb-girdle), type c5; muscular dystrophy-dystroglycanopathy limb-girdle frkp-related; muscular dystrophy-dystroglycanopathy, limb-girdle, frkp-related; muscular dystrophy, limb-girdle, type 2i","Curated_Disease_Description_Source__c":"GARD:0012533","Curated_Disease_Description__c":"FKRP-related limb-girdle muscular dystrophy R9 (also known as limb-girdle muscular dystrophy type 2I or LGMD2I) is a form of limb-girdle muscular dystrophy, which refers to a group of conditions that cause weakness and wasting of the muscles in the arms and legs. The proximal muscles (those closest to the body such as the upper arms and thighs) are generally most affected by the condition. In LGMD2I, specifically, signs and symptoms often develop in late childhood (average age 11.5 years) and may include difficulty running and walking. The symptoms gradually worsen overtime and affected people generally rely on a wheelchair for mobility approximately 23-26 years after onset. FKRP-related limb-girdle muscular dystrophy R9 is caused by changes in the FKRP gene and is inherited in an autosomal recessive manner.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"from Childhood to Adulthood","SourceID__c":"ORPHA:34515","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011787","ORPHANET_ID__c":"ORPHA:34515","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Distrofia muscular de cinturas r9 asociada a fkrp","Spanish_Description_Source__c":"ORPHA:34515","Spanish_Description__c":"Es una forma de distrofia muscular de cinturas autosómica recesiva, con una edad de inicio y un espectro fenotípico muy variables. Típicamente, se caracteriza por debilidad proximal de la musculatura de la pelvis y de la cintura escapular (que afecta predominantemente a las extremidades inferiores) lentamente progresiva, frecuentemente asociada con marcha anadeante, aleteo escapular, hipertrofia de pantorrillas, macroglosia, mialgias inducida por el ejercicio, debilidad muscular abdominal, cardiomiopatía, afectación de los músculos respiratorios y mioglobinuria y/o niveles elevados de creatinquinasa en suero.","Spanish_Disease_Name__c":"distrofia muscular de cinturas r9 asociada a fkrp","Spanish_GARD_Synonym__c":"distrofia muscular de cinturas autosómica recesiva tipo 2i; distrofia muscular de cinturas por deficiencia de fkrp; lgmd2i","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":"FKRP-related limb-girdle muscular dystrophy R9 (also known as limb-girdle muscular dystrophy type 2I or LGMD2I) is a form of limb-girdle muscular dystrophy, which refers to a group of conditions that cause weakness and wasting of the muscles in the arms and legs. The proximal muscles (those closest to the body such as the upper arms and thighs) are generally most affected by the condition. In LGMD2I, specifically, signs and symptoms often develop in late childhood (average age 11.5 years) and may include difficulty running and walking. The symptoms gradually worsen overtime and affected people generally rely on a wheelchair for mobility approximately 23-26 years after onset. FKRP-related limb-girdle muscular dystrophy R9 is caused by changes in the FKRP gene and is inherited in an autosomal recessive manner.","Curated_Disease_Description_Source__c":"GARD:0012533","GARD_Synonym__c":"autosomal recessive limb girdle muscular dystrophy type 2i; autosomal recessive limb-girdle muscular dystrophy caused by mutation in fkrp; fkrp autosomal recessive limb-girdle muscular dystrophy; fkrp-related lgmd r9; fkrp-related limb-girdle muscular dystrophy r9; lgmd due to fkrp deficiency; lgmd type 2i; lgmd-fkrp related; lgmd2i; limb girdle muscular dystrophy due to deficiency of fukutin related protein; limb-girdle muscular dystrophy due to fkrp deficiency; limb-girdle muscular dystrophy type 2i; mddgc5; muscular dystrophy limb-girdle type 2i; muscular dystrophy-dystroglycanopathy (limb-girdle) type c 5; muscular dystrophy-dystroglycanopathy (limb-girdle) type c, 5; muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 5; muscular dystrophy-dystroglycanopathy (limb-girdle), type c5; muscular dystrophy-dystroglycanopathy limb-girdle frkp-related; muscular dystrophy-dystroglycanopathy, limb-girdle, frkp-related; muscular dystrophy, limb-girdle, type 2i","Name":"Autosomal recessive limb-girdle muscular dystrophy type 2I","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":"Cure Rare Disease","Website__c":"https://www.cureraredisease.org"},{"Account_Name__c":"Muscular Dystrophy Family Foundation","Website__c":"https://mdff.org/"},{"Account_Name__c":"Cure CMD - Congenital Muscular Dystrophy","Website__c":"https://www.curecmd.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":"LGMD2i Research Fund","Website__c":"https://www.lgmd2ifund.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":"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":"Adult","Provided_By__c":"ORPHA:34515"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:34515"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:34515"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0012533","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/34515","Source__c":"C1846672; MONDO:0011787; ORPHA:34515","Xref__c":"ORPHA:34515"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=339580","Source__c":"C1846672","Xref__c":"MEDGEN:339580"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110299","Source__c":"MONDO:0011787","Xref__c":"DOID:0110299"},{"URL__c":"https://www.omim.org/entry/607155","Source__c":"C1846672; MONDO:0011787; ORPHA:34515","Xref__c":"OMIM:607155"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1846672","Source__c":"C1846672","Xref__c":"C1846672"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564612","Source__c":"MONDO:0011787","Xref__c":"C564612"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=718180000","Source__c":"C1846672; MONDO:0011787","Xref__c":"718180000"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C126739","Source__c":"C1846672; MONDO:0011787","Xref__c":"C126739"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011787","Source__c":"GARD:0012533","Xref__c":"MONDO:0011787"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"FKRP","GHR_URL__c":"https://medlineplus.gov/genetics/gene/fkrp","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:34515","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:34515","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Generalized muscular hypotonia (abnormally low muscle tone).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001290","HPO_Synonym__c":"Generalized decreased muscle tone; Generalized muscular hypotonia; Hypotonia, generalized","HPO_Name__c":"Generalized hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:34515","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the Achilles tendon.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005109","HPO_Synonym__c":"Abnormality of the Achilles tendon; Abnormality of the calcaneal tendon","HPO_Name__c":"Abnormal Achilles tendon morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:34515","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:34515","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduced amount of merosin in muscle fibers. This feature is usually assessed by immunohistochemical examination of muscle biopsy tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030092","HPO_Name__c":"Reduced muscle fiber merosin","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:34515","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of Developmental delay characterized by a delay in acquiring motor skills.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001270","HPO_Synonym__c":"Delay in development of motor milestones; Delay in motor development; Delayed development of motor milestones; Delayed early motor milestones; Delayed motor development; Delayed motor milestones; Locomotor delay; Motor developmental delay; Motor developmental milestones not achieved; Motor retardation; Retarded motor development; Slow development of motor milestones","HPO_Name__c":"Motor delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:34515","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:34515","HPO_Frequency__c":"Very frequent (80-99%)","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:34515","HPO_Frequency__c":"Occasional (5-29%)","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:34515","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced ability to run.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009046","HPO_Synonym__c":"Difficulty running","HPO_Name__c":"Difficulty running","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:34515","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:34515","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:34515","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"}},{"Provided_By__c":"ORPHA:34515","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of an abnormal lateral curvature of the spine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002650","HPO_Name__c":"Scoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:34515","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The shoulder, or pectoral, girdle is composed of the clavicles and the scapulae. Shoulder-girdle weakness refers to lack of strength of the muscles attaching to these bones, that is, lack of strength of the muscles around the shoulders.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003547","HPO_Synonym__c":"Muscle weakness, shoulder-girdle; Shoulder girdle weakness; Shoulder weakness; Weak shoulder muscles","HPO_Name__c":"Shoulder girdle muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:34515","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:34515","HPO_Frequency__c":"Very frequent (80-99%)","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"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism","Muscular Dystrophy"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"Account":["Muscular Dystrophy"]},"synonyms":["autosomal recessive limb girdle muscular dystrophy type 2i"," autosomal recessive limb-girdle muscular dystrophy caused by mutation in fkrp"," fkrp autosomal recessive limb-girdle muscular dystrophy"," fkrp-related lgmd r9"," fkrp-related limb-girdle muscular dystrophy r9"," lgmd due to fkrp deficiency"," lgmd type 2i"," lgmd-fkrp related"," lgmd2i"," limb girdle muscular dystrophy due to deficiency of fukutin related protein"," limb-girdle muscular dystrophy due to fkrp deficiency"," limb-girdle muscular dystrophy type 2i"," mddgc5"," muscular dystrophy limb-girdle type 2i"," muscular dystrophy-dystroglycanopathy (limb-girdle) type c 5"," muscular dystrophy-dystroglycanopathy (limb-girdle) type c, 5"," muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 5"," muscular dystrophy-dystroglycanopathy (limb-girdle), type c5"," muscular dystrophy-dystroglycanopathy limb-girdle frkp-related"," muscular dystrophy-dystroglycanopathy, limb-girdle, frkp-related"," muscular dystrophy, limb-girdle, type 2i"]}