{"Name":"Limb-girdle muscular dystrophy","DiseaseID__c":"GARD:0006907","id":6907,"encodedName":"limb-girdle-muscular-dystrophy","IsDeleted":false,"Disease_Name_Full__c":"Limb-girdle muscular dystrophy","Xref_IDs__c":"78468005; C0686353; C84828; D049288; DOID:11724; HP:0006785; MEDGEN:151940; MONDO:0016971; ORPHA:263","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":1,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0016971","Disease_Description__c":"Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophies characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD.","GARD_Name__c":"Limb-girdle muscular dystrophy","GARD_Synonym__c":"erb's muscular dystrophy; leyden-mbius muscular dystrophy; leyden-mobius muscular dystrophy; lgmd; limb girdle muscular dystrophy; muscular dystrophies, limb-girdle; muscular dystrophy with predominantly proximal limb girdle distribution","Curated_Disease_Description_Source__c":"GARD:0006907","Curated_Disease_Description__c":"The limb-girdle muscular dystrophies are a group of diseases that cause muscle weakness (myopathy) and wasting (atrophy). The muscles that are most affected are those closest to the center of the body (proximal muscles), specifically the muscles of the shoulders, upper arms, hips, and thighs. Signs and symptoms may appear as early as childhood and typically worsen over time. The severity, age of onset, and specific features of limb-girdle muscle dystrophy vary among affected individuals, even among members of the same family.  In the early stages of limb-girdle muscular dystrophy, affected individuals may have an unusual walking gait, such as waddling or walking on the balls of their feet. Walking this way for an extended period of time can cause overgrowth (hypertrophy) of the calf muscles. Affected individuals may also have difficulty running. They may need to use their arms to push themselves up from a squatting position because of their weak thigh muscles. Over time, as myopathy and atrophy worsen, people with limb-girdle muscular dystrophy may require wheelchair assistance. Muscle atrophy may cause changes in posture or in the appearance of the shoulders, back, and arms. In particular, weak shoulder muscles tend to make the shoulder blades (scapulae) 'stick out' from the back, a sign known as scapular winging. Weak back muscles may also cause an affected individual to have an abnormally curved lower back (lordosis) or a spine that curves to the side (scoliosis). Some affected individuals develop joint stiffness (contractures) that can restrict movement in their hips, knees, ankles, or elbows.  A weakening of the heart muscle (cardiomyopathy) occurs in some people with limb-girdle muscular dystrophy. If the weakness affects the muscles needed for breathing, affected individuals may have mild to severe breathing problems. In some cases, affected individuals need a machine to help them breathe (mechanical ventilation). Intelligence is generally not affected in people with limb-girdle muscular dystrophy. However, developmental delays and intellectual disabilities have been reported in some affected individuals who have signs and symptoms that are more severe or that appear earlier in life.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:263","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0016971","ORPHANET_ID__c":"ORPHA:263","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Distrofia muscular de cinturas","Spanish_Description_Source__c":"ORPHA:263","Spanish_Description__c":"La distrofia muscular de cinturas (LGMD) es un grupo heterogéneo de distrofias musculares caracterizado por debilidad proximal que afecta a la cintura escapular y pélvica. En algunas formas de LGMD se puede observar afectación cardiorrespiratoria.","Spanish_Disease_Name__c":"distrofia muscular de cinturas","Spanish_GARD_Synonym__c":"lgmd","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":"The limb-girdle muscular dystrophies are a group of diseases that cause muscle weakness (myopathy) and wasting (atrophy). The muscles that are most affected are those closest to the center of the body (proximal muscles), specifically the muscles of the shoulders, upper arms, hips, and thighs. Signs and symptoms may appear as early as childhood and typically worsen over time. The severity, age of onset, and specific features of limb-girdle muscle dystrophy vary among affected individuals, even among members of the same family.  In the early stages of limb-girdle muscular dystrophy, affected individuals may have an unusual walking gait, such as waddling or walking on the balls of their feet. Walking this way for an extended period of time can cause overgrowth (hypertrophy) of the calf muscles. Affected individuals may also have difficulty running. They may need to use their arms to push themselves up from a squatting position because of their weak thigh muscles. Over time, as myopathy and atrophy worsen, people with limb-girdle muscular dystrophy may require wheelchair assistance. Muscle atrophy may cause changes in posture or in the appearance of the shoulders, back, and arms. In particular, weak shoulder muscles tend to make the shoulder blades (scapulae) 'stick out' from the back, a sign known as scapular winging. Weak back muscles may also cause an affected individual to have an abnormally curved lower back (lordosis) or a spine that curves to the side (scoliosis). Some affected individuals develop joint stiffness (contractures) that can restrict movement in their hips, knees, ankles, or elbows.  A weakening of the heart muscle (cardiomyopathy) occurs in some people with limb-girdle muscular dystrophy. If the weakness affects the muscles needed for breathing, affected individuals may have mild to severe breathing problems. In some cases, affected individuals need a machine to help them breathe (mechanical ventilation). Intelligence is generally not affected in people with limb-girdle muscular dystrophy. However, developmental delays and intellectual disabilities have been reported in some affected individuals who have signs and symptoms that are more severe or that appear earlier in life.","Curated_Disease_Description_Source__c":"GARD:0006907","GARD_Synonym__c":"erb's muscular dystrophy; leyden-mbius muscular dystrophy; leyden-mobius muscular dystrophy; lgmd; limb girdle muscular dystrophy; muscular dystrophies, limb-girdle; muscular dystrophy with predominantly proximal limb girdle distribution","Name":"Limb-girdle muscular dystrophy","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Muscular Dystrophy Foundation Australia","Website__c":"https://mdaustralia.org.au/"},{"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"},{"Account_Name__c":"Cure Rare Disease","Website__c":"https://www.cureraredisease.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":"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":"All ages","Provided_By__c":"ORPHA:263"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0686353"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C049288","Source__c":"C0686353; MONDO:0016971","Xref__c":"D049288"},{"URL__c":"https://www.orpha.net/en/disease/detail/263","Source__c":"C0686353; MONDO:0016971; ORPHA:263","Xref__c":"ORPHA:263"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A11724","Source__c":"MONDO:0016971","Xref__c":"DOID:11724"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84828","Source__c":"C0686353; MONDO:0016971","Xref__c":"C84828"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=151940","Source__c":"C0686353","Xref__c":"MEDGEN:151940"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0686353","Source__c":"C0686353","Xref__c":"C0686353"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=78468005","Source__c":"MONDO:0016971","Xref__c":"78468005"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=240046001","Source__c":"C0686353","Xref__c":"240046001"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0006785","Source__c":"C0686353","Xref__c":"HP:0006785"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016971","Source__c":"GARD:0006907","Xref__c":"MONDO:0016971"},{"URL__c":"https://medlineplus.gov/genetics/condition/limb-girdle-muscular-dystrophy","Source__c":"GARD:0006907","Xref__c":"https://medlineplus.gov/genetics/condition/limb-girdle-muscular-dystrophy"}],"Inheritance__c":["Autosomal recessive","Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Muscular Dystrophy"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"Account":["Muscular Dystrophy"]},"synonyms":["erb's muscular dystrophy"," leyden-mbius muscular dystrophy"," leyden-mobius muscular dystrophy"," lgmd"," limb girdle muscular dystrophy"," muscular dystrophies, limb-girdle"," muscular dystrophy with predominantly proximal limb girdle distribution"]}