limb-girdle muscular dystrophy

GPTKB entity

Predicate	Object
gptkbp:instanceOf	gptkb:genetic_disorder gptkb:muscular_dystrophy
gptkbp:affects	gptkb:skeletal_muscle pelvic girdle muscles shoulder girdle muscles
gptkbp:complication	respiratory problems loss of mobility cardiac involvement
gptkbp:diagnosedBy	genetic testing electromyography muscle biopsy blood tests
gptkbp:firstDescribed	1954
gptkbp:ICD-10_code	G71.0
gptkbp:inheritance	autosomal dominant autosomal recessive
gptkbp:MeSH_ID	D009135
gptkbp:mutationAssociatedWith	various genes
gptkbp:namedAfter	limb girdle
gptkbp:OMIM	253600
gptkbp:onset	childhood adolescence adulthood
gptkbp:prevalence	rare
gptkbp:prognosis	variable
gptkbp:studiedBy	gptkb:gene_therapy stem cell therapy
gptkbp:subspecies	gptkb:LGMD1 gptkb:LGMD2
gptkbp:symptom	muscle weakness muscle wasting
gptkbp:treatment	occupational therapy physical therapy medications orthopedic devices
gptkbp:bfsParent	gptkb:Muscular_Dystrophy_UK gptkb:LMNA gptkb:sarcoglycan gptkb:sarcoglycan_complex
gptkbp:bfsLayer	8
https://www.w3.org/2000/01/rdf-schema#label	limb-girdle muscular dystrophy