Calpain-3-related limb-girdle muscular dystrophy R1

What is Calpain-3-related limb-girdle muscular dystrophy R1?

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.

Other condition names

  • Autosomal recessive limb-girdle muscular dystrophy type 2A
  • Calpain-3-related LGMD R1
  • LGMD type 2A
  • LGMD2A
  • Limb-girdle muscular dystrophy due to calpain deficiency
  • Limb-girdle muscular dystrophy type 2A
  • Primary calpainopathy

Inheritance type

Autosomal recessive


  • Europe: 1-9 in 100,000

Age of Onset

  • Adolescent
  • Adult
  • Childhood
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