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Dysferlin-related limb-girdle muscular dystrophy R2

Disease definition

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

Classification level: Disorder
  • Synonym(s):
    • Autosomal recessive limb-girdle muscular dystrophy type 2B
    • Dysferlin-related LGMD R2
    • LGMD due to dysferlin deficiency
    • LGMD type 2B
    • LGMD2B
    • Limb-girdle muscular dystrophy due to dysferlin deficiency
    • Limb-girdle muscular dystrophy type 2B
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Adolescent, Adult
  • ICD-10: G71.0
  • ICD-11: 8C70.41
  • OMIM: 253601
  • UMLS: C1850889
  • MeSH: -
  • GARD: 8574
  • MedDRA: -

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.