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Delta-sarcoglycan-related limb-girdle muscular dystrophy R6

Disease definition

A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable age of onset of progressive weakness and wasting of the proximal skeletal muscles of the shoulder and pelvic girdles, frequently associated with progressive respiratory muscle impairment and cardiomyopathy. Calf hypertrophy, muscle cramps and elevated serum creatine kinase levels are also observed. Neuropsychomotor development is usually normal.

ORPHA:219

Classification level: Disorder
  • Synonym(s):
    • Autosomal recessive limb-girdle muscular dystrophy type 2F
    • Delta-sarcoglycan-related LGMD R6
    • Delta-sarcoglycanopathy
    • LGMD due to delta-sarcoglycan deficiency
    • LGMD type 2F
    • LGMD2F
    • Limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency
    • Limb-girdle muscular dystrophy type 2F
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: G71.0
  • OMIM: 601287
  • UMLS: C1832525
  • MeSH: -
  • GARD: 1799  8573
  • MedDRA: -

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