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ISPD-related limb-girdle muscular dystrophy R20

Disease definition

A rare subtype of autosomal recessive limb-girdle muscular dystrophy disorder characterized by infantile to childhood-onset of slowly progressive, principally proximal, shoulder and/or pelvic-girdle muscular weakness that typically presents with positive Gowers' sign and is associated with elevated creatine kinase levels, hyporeflexia, joint and achilles tendon contractures, and muscle hypertrophy, usually of the thighs, calves and/or tongue. Other highly variable features include cerebellar, cardiac and ocular abnormalities.

ORPHA:352479

Classification level: Disorder
  • Synonym(s):
    • Autosomal recessive limb-girdle muscular dystrophy type 2U
    • ISPD-related LGMD R20
    • LGMD type 2U
    • LGMD2U
    • Limb-girdle muscular dystrophy type 2U
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Childhood
  • ICD-10: G71.0
  • OMIM: 616052
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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