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Calpain-3-related limb-girdle muscular dystrophy R1

Disease definition

A subtype of autosomal recessive limb girdle muscular dystrophy characterized by a variable age of onset of progressive, typically symmetrical and selective weakness and atrophy of proximal shoulder- and pelvic-girdle muscles (gluteus maximus, thigh adductors, and muscles of the posterior compartment of the limbs are most commonly affected) without cardiac or facial involvement. Clinical manifestations include exercise intolerance, a waddling gait, scapular winging and calf pseudo-hypertrophy.

ORPHA:267

Classification level: Disorder
  • Synonym(s):
    • Autosomal recessive limb-girdle muscular dystrophy type 2A
    • LGMD2A
    • Limb-girdle muscular dystrophy due to calpain deficiency
    • Primary calpainopathy
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood, Adolescent, Adult
  • ICD-10: G71.0
  • OMIM: 253600  618129
  • UMLS: C1869123
  • MeSH: -
  • GARD: 1057
  • MedDRA: -

Detailed information

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