{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4420","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4380","results":[{"identifier":"Muscular dystrophy-dystroglycanopathy limb-girdle C15.","acronym":"MDDGC15.","accession":"DI-02496","synonyms":"CDG1O.; CDGIo.; CDG Io.; CDG-Io.; Congenital disorder of glycosylation 1O.; Congenital disorder of glycosylation type Io.; Muscular dystrophy-dystroglycanopathy, limb-girdle, DPM3-related.; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15.; ","cross_references":"MeSH; D018981.","definition":"An autosomal recessive muscular dystrophy associated with a disorder of glycosylation resulting in under-glycosylated serum glycoproteins. MDDGC15 patients have muscle weakness, increased serum creatine kinase, dystrophic changes on muscle biopsy, and reduced O- mannosylation of alpha-dystroglycan. ","keywords":"KW-0900:Congenital disorder of glycosylation.; KW-0912:Congenital muscular dystrophy.; KW-1215:Dystroglycanopathy.; "},{"identifier":"Muscular dystrophy-dystroglycanopathy limb-girdle C2.","acronym":"MDDGC2.","accession":"DI-02956","synonyms":"LGMD2N.; LGMDR14.; Limb-girdle muscular dystrophy type 2N.; MDGD2C.; Muscular dystrophy, limb-girdle, autosomal recessive 14.; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2.; Muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related.; ","cross_references":"MeSH; D049288.","definition":"An autosomal recessive muscular dystrophy with onset after ambulation is achieved. MDDGC2 is characterized by increased serum creatine kinase and mild muscle weakness. Muscle biopsy shows dystrophic changes, inflammatory changes, and severely decreased alpha- dystroglycan. Cognition is normal. ","keywords":"KW-0947:Limb-girdle muscular dystrophy.; KW-1215:Dystroglycanopathy.; "},{"identifier":"Muscular dystrophy-dystroglycanopathy limb-girdle C3.","acronym":"MDDGC3.","accession":"DI-02957","synonyms":"LGMDR15.; Muscular dystrophy, limb-girdle, autosomal recessive 15.; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3.; Muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related.; ","cross_references":"MeSH; D049288.","definition":"A rare form of limb-girdle muscular dystrophy with normal cognition. Muscle biopsy shows dystrophic changes with variable staining for glycosylated alpha-dystroglycan. ","keywords":"KW-0947:Limb-girdle muscular dystrophy.; KW-1215:Dystroglycanopathy.; "},{"identifier":"Muscular dystrophy-dystroglycanopathy limb-girdle C4.","acronym":"MDDGC4.","accession":"DI-00669","synonyms":"LGMD2M.; LGMDR13.; Limb-girdle muscular dystrophy type 2M.; MDGD4C.; Muscular dystrophy, limb-girdle, autosomal recessive 13.; Muscular dystrophy due to defective glycosylation of dystroglycan 4C.; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4.; ","cross_references":"MeSH; D049288.","definition":"An autosomal recessive degenerative myopathy characterized by progressive weakness of the pelvic and shoulder girdle muscles, and elevated serum creatine kinase. MDDGC4 has no brain involvement and a remarkable clinical response to corticosteroids. ","keywords":"KW-0947:Limb-girdle muscular dystrophy.; KW-1215:Dystroglycanopathy.; "},{"identifier":"Muscular dystrophy-dystroglycanopathy limb-girdle C5.","acronym":"MDDGC5.","accession":"DI-00666","synonyms":"LGMD2I.; LGMDR9.; Limb-girdle muscular dystrophy type 2I.; Muscular dystrophy, limb-girdle, autosomal recessive 9.; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5.; Muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related.; ","cross_references":"MeSH; D049288.","definition":"An autosomal recessive degenerative myopathy with age of onset ranging from childhood to adult life, and variable severity. Clinical features include proximal muscle weakness, waddling gait, calf hypertrophy, cardiomyopathy and respiratory insufficiency. A reduction of alpha- dystroglycan and laminin alpha-2 expression can be observed on skeletal muscle biopsy from MDDGC5 patients. ","keywords":"KW-0947:Limb-girdle muscular dystrophy.; KW-1215:Dystroglycanopathy.; "},{"identifier":"Muscular dystrophy-dystroglycanopathy limb-girdle C7.","acronym":"MDDGC7.","accession":"DI-04245","synonyms":"LGMD2U.; LGMDR20.; Muscular dystrophy, limb-girdle, autosomal recessive 20.; Muscular dystrophy, limb-girdle, type 2U.; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7.; ","cross_references":"MeSH; D049288.","definition":"A form of muscular dystrophy resulting from defective glycosylation of alpha-dystroglycan, and characterized by a limb-girdle phenotype with muscular weakness apparent after ambulation is achieved. MDDGC7 individuals do not show epilepsy, intellectual disability, structural eye/brain abnormalities, or white matter changes. ","keywords":"KW-0947:Limb-girdle muscular dystrophy.; KW-1215:Dystroglycanopathy.; "},{"identifier":"Muscular dystrophy-dystroglycanopathy limb-girdle C8.","acronym":"MDDGC8.","accession":"DI-05342","synonyms":"LGMDR24.; Muscular dystrophy, limb-girdle, autosomal recessive 24.; Muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT2-related.; ","cross_references":"MeSH; D049288.","definition":"An autosomal recessive muscular disease with onset in childhood, characterized by limb-girdle muscular dystrophy and intellectual disability without brain malformation. Disease severity is highly variable and some patients may be clinically asymptomatic. ","keywords":"KW-0947:Limb-girdle muscular dystrophy.; KW-1215:Dystroglycanopathy.; "},{"identifier":"Muscular dystrophy-dystroglycanopathy limb-girdle C9.","acronym":"MDDGC9.","accession":"DI-03074","synonyms":"LGMD2P.; LGMDR16.; Muscular dystrophy, limb-girdle, autosomal recessive 16.; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9.; Muscular dystrophy-dystroglycanopathy limb-girdle DAG1-related.; Muscular dystrophy limb-girdle type 2P.; ","cross_references":"MeSH; D049288.","definition":"An autosomal recessive muscular dystrophy showing onset in early childhood, and associated with intellectual disability without structural brain anomalies. ","keywords":"KW-0947:Limb-girdle muscular dystrophy.; KW-1215:Dystroglycanopathy.; "},{"identifier":"Muscular dystrophy, limb-girdle, autosomal dominant 1.","acronym":"LGMDD1.","accession":"DI-03434","synonyms":"LGMD1D.; LGMD1E.; Limb-girdle muscular dystrophy 1E.; Limb-girdle muscular dystrophy type 1D.; MDRV.; Muscular dystrophy, autosomal dominant, with rimmed vacuoles.; Muscular dystrophy, limb-girdle, type 1D.; Muscular dystrophy, limb-girdle, type 1E.; ","cross_references":"MeSH; D049288.","definition":"An autosomal dominant myopathy characterized by adult onset of proximal muscle weakness, beginning in the hip girdle region and later progressing to the shoulder girdle region. ","keywords":"KW-0947:Limb-girdle muscular dystrophy.; "},{"identifier":"Muscular dystrophy, limb-girdle, autosomal dominant 2.","acronym":"LGMDD2.","accession":"DI-04143","synonyms":"LGMD1F.; Limb-girdle muscular dystrophy 1F.; Muscular dystrophy, limb-girdle, type 1F.; ","cross_references":"MeSH; D049288.","definition":"An autosomal dominant myopathy characterized by proximal muscle weakness primarily affecting the lower limbs, but also affecting the upper limbs in most patients. Affected individuals also have distal muscle weakness of the hands and lower leg muscles. The disease has generally a benign clinical course but some individuals with childhood or juvenile onset manifest severe widespread myopathy, leading to wheelchair dependency and respiratory insufficiency. Muscle biopsy shows dystrophic changes with abnormal nuclei, rimmed vacuoles, and filamentous inclusions. ","keywords":"KW-0947:Limb-girdle muscular dystrophy.; "},{"identifier":"Muscular dystrophy, limb-girdle, autosomal dominant 3.","acronym":"LGMDD3.","accession":"DI-04211","synonyms":"LGMD1G.; Limb-girdle muscular dystrophy 1G.; Muscular dystrophy, limb-girdle, type 1G.; ","cross_references":"MeSH; D049288.","definition":"An autosomal dominant degenerative myopathy characterized by slowly progressive wasting and weakness of the proximal muscles of arms and legs around the pelvic or shoulder girdles, elevated creatine kinase levels and dystrophic features on muscle biopsy. LGMDD3 is characterized by a mild late-onset and is associated with progressive fingers and toes flexion limitation. Affected individuals may also develop cataracts before age 50. ","keywords":"KW-0947:Limb-girdle muscular dystrophy.; "},{"identifier":"Muscular dystrophy, limb-girdle, autosomal dominant 4.","acronym":"LGMDD4.","accession":"DI-05338","synonyms":"LGMD1I.; Muscular dystrophy, limb-girdle, type 1I.; ","cross_references":"MeSH; D049288.","definition":"A form of autosomal dominant limb-girdle muscular dystrophy, a myopathy characterized by proximal and/or distal muscle weakness and atrophy. The age at onset is variable and can range from the first to the sixth decade, although later onset is less common. LGMDD4 is characterized by onset of proximal muscle weakness in young adulthood, gait difficulties, increased serum creatine kinase, myalgia, and back pain. Some patients may have upper limb involvement. Disease severity and expressivity are highly variable. ","keywords":"KW-0947:Limb-girdle muscular dystrophy.; "},{"identifier":"Muscular dystrophy, limb-girdle, autosomal recessive 1.","acronym":"LGMDR1.","accession":"DI-00658","synonyms":"Calpainopathy.; Leyden-Moebious muscular dystrophy.; LGMD2.; LGMD2A.; Limb-girdle muscular dystrophy 2A.; Muscular dystrophy, limb-girdle, type 2.; Muscular dystrophy, limb-girdle, type 2A.; Muscular dystrophy, pelvofemoral.; ","cross_references":"MeSH; D049288.","definition":"An autosomal recessive degenerative myopathy characterized by progressive symmetrical atrophy and weakness of the proximal limb muscles and elevated serum creatine kinase. The symptoms usually begin during the first two decades of life, and the disease gradually worsens, often resulting in loss of walking ability 10 or 20 years after onset. ","keywords":"KW-0947:Limb-girdle muscular dystrophy.; "},{"identifier":"Muscular dystrophy, limb-girdle, autosomal recessive 10.","acronym":"LGMDR10.","accession":"DI-00667","synonyms":"LGMD2J.; Limb-girdle muscular dystrophy 2J.; Muscular dystrophy, limb-girdle, type 2J.; ","cross_references":"MeSH; D049288.","definition":"An autosomal recessive degenerative myopathy characterized by progressive weakness of the pelvic and shoulder girdle muscles. Severe disability is observed within 20 years of onset. ","keywords":"KW-0947:Limb-girdle muscular dystrophy.; "},{"identifier":"Muscular dystrophy, limb-girdle, autosomal recessive 12.","acronym":"LGMDR12.","accession":"DI-02703","synonyms":"LGMD2L.; Limb-girdle muscular dystrophy 2L.; Muscular dystrophy, limb-girdle, type 2L.; ","cross_references":"MeSH; D049288.","definition":"An autosomal recessive degenerative myopathy characterized by proximal weakness, weakness of the hip and shoulder girdles and prominent asymmetrical quadriceps femoris and biceps brachii atrophy. ","keywords":"KW-0947:Limb-girdle muscular dystrophy.; "},{"identifier":"Muscular dystrophy, limb-girdle, autosomal recessive 17.","acronym":"LGMDR17.","accession":"DI-03000","synonyms":"LGMD2Q.; Limb-girdle muscular dystrophy 2Q.; Muscular dystrophy, limb-girdle, type 2Q.; ","cross_references":"MeSH; D049288.","definition":"A form of limb-girdle muscular dystrophy characterized by early childhood onset of proximal muscle weakness. Limb-girdle muscular dystrophies are characterized by proximal weakness, weakness of the hip and shoulder girdles and prominent asymmetrical quadriceps femoris and biceps brachii atrophy. ","keywords":"KW-0947:Limb-girdle muscular dystrophy.; "},{"identifier":"Muscular dystrophy, limb-girdle, autosomal recessive 18.","acronym":"LGMDR18.","accession":"DI-03850","synonyms":"LGMD2S.; Limb-girdle muscular dystrophy 2S.; Muscular dystrophy, limb-girdle, type 2S.; ","cross_references":"MeSH; D049288.","definition":"A form of limb-girdle muscular dystrophy characterized by proximal muscle weakness with childhood onset, resulting in gait abnormalities and scapular winging. Serum creatine kinase is increased. A subset of patients may show a hyperkinetic movement disorder with chorea, ataxia, or dystonia and global developmental delay. ","keywords":"KW-0947:Limb-girdle muscular dystrophy.; "},{"identifier":"Muscular dystrophy, limb-girdle, autosomal recessive 2.","acronym":"LGMDR2.","accession":"DI-00659","synonyms":"LGMD2B.; LGMD3.; Limb-girdle muscular dystrophy 2B.; Muscular dystrophy, limb-girdle, type 2B.; Muscular dystrophy, limb-girdle, type 3.; ","cross_references":"MeSH; D049288.","definition":"An autosomal recessive degenerative myopathy characterized by weakness and atrophy starting in the proximal pelvifemoral muscles, with onset in the late teens or later, massive elevation of serum creatine kinase levels and slow progression. Scapular muscle involvement is minor and not present at onset. Upper limb girdle involvement follows some years after the onset in lower limbs. ","keywords":"KW-0947:Limb-girdle muscular dystrophy.; "},{"identifier":"Muscular dystrophy, limb-girdle, autosomal recessive 21.","acronym":"LGMDR21.","accession":"DI-04915","synonyms":"LGMD2Z.; Limb-girdle muscular dystrophy 2Z.; Muscular dystrophy, limb-girdle, type 2Z.; ","cross_references":"MeSH; D049288.","definition":"A form of autosomal recessive limb-girdle muscular dystrophy, a degenerative myopathy characterized by slowly progressive wasting and weakness of the proximal muscles of arms and legs around the pelvic or shoulder girdles, elevated creatine kinase levels and dystrophic features on muscle biopsy. LGMDR21 is characterized by young-adult onset. ","keywords":"KW-0947:Limb-girdle muscular dystrophy.; "},{"identifier":"Muscular dystrophy, limb-girdle, autosomal recessive 23.","acronym":"LGMDR23.","accession":"DI-05343","synonyms":null,"cross_references":"MeSH; D049288.","definition":"A form of autosomal recessive limb-girdle muscular dystrophy, a myopathy characterized by proximal and/or distal muscle weakness and atrophy. The age at onset is variable and can range from the first to the sixth decade, although later onset is less common. LGMDR23 is characterized by slowly progressive proximal muscle weakness primarily affecting the lower limbs, increased serum creatine kinase, dystrophic features, gait difficulties, and white matter abnormalities on brain imaging. Age at onset generally ranges from childhood to mid- adulthood. Some patients may have additional neurologic features, including executive deficits, seizures, and peripheral neuropathy. ","keywords":"KW-0947:Limb-girdle muscular dystrophy.; "}]}