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Autosomal recessive limb-girdle muscular dystrophy type 2R

Disease definition

A form of limb-girdle muscular dystrophy characterized by the adolescent or early adulthood-onset of progressive proximal muscle weakness and mild facial muscle weakness, with patients becoming wheelchair bound in their fourth to fifth decade of life. Mild, bilateral winged scapula, incomplete right bundle branch block, and a sinus rhythm with very rare ventricular extrasystoles have also been reported.

ORPHA:363543

Classification level: Disorder
  • Synonym(s):
    • Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency
    • LGMD2R
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Adolescent, Adult
  • ICD-10: G71.0
  • OMIM: 601419  615325
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

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