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Autosomal recessive limb-girdle muscular dystrophy type 2B

Disease definition

Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by an onset in late adolescence or early adulthood of slowly progressive, proximal weakness and atrophy of shoulder and pelvic girdle muscles. Cardiac and respiratory muscles are not involved. Hypertrophy of the calf muscles and highly elevated serum creatine kinase levels are frequently observed.

ORPHA:268

  • Synonym(s):
    • LGMD2B
    • Limb-girdle muscular dystrophy due to dysferlin deficiency
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Adolescent, Adult
  • ICD-10: G71.0
  • OMIM: 253601
  • UMLS: C1850889
  • MeSH: -
  • GARD: 8574
  • MedDRA: -

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