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Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3

Disease definition

A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by childhood onset of progressive proximal weakness of the shoulder and pelvic girdle muscles, resulting in difficulty walking, scapular winging, calf hypertrophy and contractures of the Achilles tendon, which lead to a tiptoe gait pattern. Cardiac and respiratory involvement is rare.

ORPHA:62

Classification level: Disorder
  • Synonym(s):
    • Alpha-sarcoglycanopathy
    • Autosomal recessive limb-girdle muscular dystrophy type 2D
    • LGMD2D
    • Limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Adolescent, Childhood
  • ICD-10: G71.0
  • OMIM: 608099
  • UMLS: C1842550  C2936332
  • MeSH: -
  • GARD: 438
  • MedDRA: -

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