{"Name":"Autosomal recessive limb-girdle muscular dystrophy type 2M","DiseaseID__c":"GARD:0012538","id":12538,"encodedName":"autosomal-recessive-limb-girdle-muscular-dystrophy-type-2m","IsDeleted":false,"Disease_Name_Full__c":"Autosomal recessive limb-girdle muscular dystrophy type 2M","Xref_IDs__c":"C1969040; C566912; DOID:0110296; MEDGEN:370585; MONDO:0012699; OMIM:611588; ORPHA:206554","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":2,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0012699","Disease_Description__c":"A form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases.","GARD_Name__c":"Autosomal recessive limb-girdle muscular dystrophy type 2M","GARD_Synonym__c":"autosomal recessive lgmd type 2m; autosomal recessive limb girdle muscular dystrophy type 2m; autosomal recessive limb-girdle muscular dystrophy caused by mutation in fktn; fktn autosomal recessive limb-girdle muscular dystrophy; fukutin-related lgmd r13; fukutin-related limb-girdle muscular dystrophy r13; lgmd type 2m; lgmd-fktn related; lgmd2m; mddgc4; muscular dystrophy-dystroglycanopathy (limb-girdle) type c 4; muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 4; muscular dystrophy, limb-girdle, type 2m","Curated_Disease_Description_Source__c":"MONDO:0012699","Curated_Disease_Description__c":"A form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant","SourceID__c":"ORPHA:206554","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012699","ORPHANET_ID__c":"ORPHA:206554","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Distrofia muscular de cinturas r13 asociada a fukutina","Spanish_Description_Source__c":"ORPHA:206554","Spanish_Description__c":"Es una forma de distrofia muscular de cinturas caracterizada por un inicio en la infancia con hipotonía, debilidad axial y proximal de las extremidades inferiores (con debilidad grave experimentada después de enfermedades febriles), cardiomiopatía e inteligencia normal o reducida. En algunos casos también se ha descrito hipertrofia de los gemelos, muslos y tríceps.","Spanish_Disease_Name__c":"distrofia muscular de cinturas r13 asociada a fukutina","Spanish_GARD_Synonym__c":"distrofia muscular de cinturas autosómica recesiva tipo 2m; lgmd2m","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 an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases.","Curated_Disease_Description_Source__c":"MONDO:0012699","GARD_Synonym__c":"autosomal recessive lgmd type 2m; autosomal recessive limb girdle muscular dystrophy type 2m; autosomal recessive limb-girdle muscular dystrophy caused by mutation in fktn; fktn autosomal recessive limb-girdle muscular dystrophy; fukutin-related lgmd r13; fukutin-related limb-girdle muscular dystrophy r13; lgmd type 2m; lgmd-fktn related; lgmd2m; mddgc4; muscular dystrophy-dystroglycanopathy (limb-girdle) type c 4; muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 4; muscular dystrophy, limb-girdle, type 2m","Name":"Autosomal recessive limb-girdle muscular dystrophy type 2M","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":"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":"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":"Infancy","Provided_By__c":"ORPHA:206554"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1969040"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=370585","Source__c":"C1969040","Xref__c":"MEDGEN:370585"},{"URL__c":"https://www.orpha.net/en/disease/detail/206554","Source__c":"C1969040; MONDO:0012699; ORPHA:206554","Xref__c":"ORPHA:206554"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1969040","Source__c":"C1969040","Xref__c":"C1969040"},{"URL__c":"https://www.omim.org/entry/611588","Source__c":"C1969040; MONDO:0012699; ORPHA:206554","Xref__c":"OMIM:611588"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110296","Source__c":"MONDO:0012699","Xref__c":"DOID:0110296"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C566912","Source__c":"MONDO:0012699","Xref__c":"C566912"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012699","Source__c":"GARD:0012538","Xref__c":"MONDO:0012699"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=726618007","Source__c":"C1969040","Xref__c":"726618007"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"FKTN","GHR_URL__c":"https://medlineplus.gov/genetics/gene/fktn","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:611588","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":"OMIM:611588","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Weakness of the peroneal muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011727","HPO_Synonym__c":"Fibularis muscle weakness","HPO_Name__c":"Peroneal muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:611588","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":"OMIM:611588","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":"OMIM:611588","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":"OMIM:611588","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":"OMIM:611588","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction in the degree of glycosylation of alpha-dystroglycan in muscle tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030046","HPO_Name__c":"Hypoglycosylation of alpha-dystroglycan","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:611588","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001762","HPO_Synonym__c":"Club feet; Club foot; Clubbing of feet; Clubfeet; Clubfoot; Equinovarus; Foot, talipes equinovarus; Pes equinovarus; Pes equinus","HPO_Name__c":"Talipes equinovarus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:611588","Feature__r":{"HPO_Description__c":"Abnormal increase in muscle size and mass not due to training.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003712","HPO_Synonym__c":"Hypertrophic muscles; Increased skeletal muscle cells; Muscle hypertrophy; Muscular hypertrophy","HPO_Name__c":"Skeletal muscle hypertrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:611588","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:611588","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":"OMIM:611588","Feature__r":{"HPO_Description__c":"A defect of the chest wall characterized by a depression of the sternum, giving the chest (\\\"pectus\\\") a caved-in (\\\"excavatum\\\") appearance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000767","HPO_Synonym__c":"Funnel chest","HPO_Name__c":"Pectus excavatum","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:611588","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003323","HPO_Synonym__c":"Muscle weakness, progressive; Progressive muscular weakness","HPO_Name__c":"Progressive muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:611588","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"}},{"Provided_By__c":"OMIM:611588","Feature__r":{"HPO_Description__c":"Reduction of neurologic reflexes such as the knee-jerk reaction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001265","HPO_Synonym__c":"Decreased reflex response; Decreased reflexes","HPO_Name__c":"Hyporeflexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:611588","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001252","HPO_Synonym__c":"Low muscle tone; Low or weak muscle tone; Muscle hypotonia; Muscular hypotonia","HPO_Name__c":"Hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:611588","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":"OMIM:611588","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"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism","Muscular Dystrophy"],"Specialist":["Genetics","Cardiology","Neurology","Neuromuscular medicine","Pediatrics"],"Account":["Muscular Dystrophy","Cardiomyopathy"]},"synonyms":["autosomal recessive lgmd type 2m"," autosomal recessive limb girdle muscular dystrophy type 2m"," autosomal recessive limb-girdle muscular dystrophy caused by mutation in fktn"," fktn autosomal recessive limb-girdle muscular dystrophy"," fukutin-related lgmd r13"," fukutin-related limb-girdle muscular dystrophy r13"," lgmd type 2m"," lgmd-fktn related"," lgmd2m"," mddgc4"," muscular dystrophy-dystroglycanopathy (limb-girdle) type c 4"," muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 4"," muscular dystrophy, limb-girdle, type 2m"]}