Muscular Dystrophy, Limb-Girdle, Type 2c malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases
Aliases & Descriptions for Muscular Dystrophy, Limb-Girdle, Type 2c:
Orphanet epidemiological data:53
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Childhood; Age of death: adult
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Muscle diseases
ICD10: 30 29
Rare neurological diseases
NIH Rare Diseases:47 Limb-girdle muscular dystrophy type 2C (LGMD2C) is a genetic condition that affects the voluntary muscles around the hips and shoulders. This condition belongs to a group of muscle disorders called limb-girdle muscular dystrophies, which are characterized by progressive loss of muscle bulk and symmetrical weakening of voluntary muscles. Symptoms of LGMD2C usually appear around 6-8 years of age, may be mild or severe, and can progress to loss of the ability to walk by 12-16 years. Symptoms may additionally include: enlargement (hypertrophy) of the calf muscle and tongue, diseases of the heart muscle (cardiomyopathy), and respiratory abnormalities. LGMD2C is caused by mutations in the SGCG gene and is inherited in an autosomal recessive manner. Although there is no specific treatment or cure for LGMD2C, there are ways to manage the symptoms. A team of doctors or specialists is often needed to figure out the treatment options for each person. Last updated: 8/9/2016
MalaCards based summary: Muscular Dystrophy, Limb-Girdle, Type 2c, also known as lgmd2c, is related to muscular dystrophy, limb-girdle, type 2d and sarcoglycanopathies, and has symptoms including flexion contracture, right ventricular hypertrophy and pneumonia. An important gene associated with Muscular Dystrophy, Limb-Girdle, Type 2c is SGCG (Sarcoglycan Gamma). Affiliated tissues include heart, tongue and skeletal muscle.
Disease Ontology:11 An autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous mutation in the gamma-sarcoglycan gene (SGCG) on chromosome 13q12.
UniProtKB/Swiss-Prot:69 Limb-girdle muscular dystrophy 2C: An autosomal recessive degenerative myopathy characterized by rapidly progressive muscle wasting from early childhood with loss of independent ambulation around age 12 years, dystrophic pattern on muscle biopsy, absence of gamma-sarcoglycan and normal dystrophin immunostaining.
Description from OMIM:51 253700
Human phenotypes related to Muscular Dystrophy, Limb-Girdle, Type 2c:63 (show all 13)
Drugs for Muscular Dystrophy, Limb-Girdle, Type 2c (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 11)
Interventional clinical trials:
Search NIH Clinical Center for Muscular Dystrophy, Limb-Girdle, Type 2c
MalaCards organs/tissues related to Muscular Dystrophy, Limb-Girdle, Type 2c:35
Heart, Tongue, Skeletal muscle
UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy, Limb-Girdle, Type 2c:69
Clinvar genetic disease variations for Muscular Dystrophy, Limb-Girdle, Type 2c:5 (show all 18)
Copy number variations for Muscular Dystrophy, Limb-Girdle, Type 2c from CNVD:6
Search GEO for disease gene expression data for Muscular Dystrophy, Limb-Girdle, Type 2c.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet