Orphanet: Gamma sarcoglycan related limb girdle muscular dystrophy R5
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Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5

Disease definition

A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported.

ORPHA:353

Classification level: Disorder
  • Synonym(s):
    • Autosomal recessive limb-girdle muscular dystrophy type 2C
    • Gamma-sarcoglycan-related LGMD R5
    • Gamma-sarcoglycanopathy
    • LGMD due to gamma-sarcoglycan deficiency
    • LGMD type 2C
    • LGMD2C
    • Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency
    • Limb-girdle muscular dystrophy type 2C
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: G71.0
  • OMIM: 253700
  • UMLS: C0410173
  • MeSH: -
  • GARD: 2429
  • MedDRA: -

Detailed information

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