LGMD2C
MCID: MSC171
MIFTS: 35
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Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 (LGMD2C)
Categories:
Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5:
Name: Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
57
Characteristics:Orphanet epidemiological data:59
autosomal recessive limb-girdle muscular dystrophy type 2c
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Childhood; Age of death: adult; OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
rapid progression onset 1-12 years prevalent in north africa wheelchair use by 10-30 years HPO:32
muscular dystrophy, limb-girdle, autosomal recessive 5:
Onset and clinical course rapidly progressive Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Neuronal diseases Muscle diseases
ICD10:
34
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NIH Rare Diseases
:
53
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.
MalaCards based summary : Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5, also known as lgmd2c, is related to autosomal recessive limb-girdle muscular dystrophy type 2c and muscular dystrophy, limb-girdle, autosomal recessive 3. An important gene associated with Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 is SGCG (Sarcoglycan Gamma). Affiliated tissues include heart, tongue and lung, and related phenotypes are scoliosis and elevated serum creatine phosphokinase UniProtKB/Swiss-Prot : 75 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:
253700
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:253700Human phenotypes related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5:59 32 (show all 35)
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MalaCards organs/tissues related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5:41
Heart,
Tongue,
Lung,
Skeletal Muscle
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Articles related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5:(show all 11)
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UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5:75
ClinVar genetic disease variations for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5:6 (show top 50) (show all 171)
Copy number variations for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 from CNVD:7
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Search
GEO
for disease gene expression data for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5.
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