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Autosomal recessive limb-girdle muscular dystrophy type 2E

Disease definition

Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a childhood to adolescent onset of progressive pelvic- and shoulder-girdle muscle weakness, particularly affecting the pelvic girdle (adductors and flexors of hip). Usually the knees are the earliest and most affected muscles. In advanced stages, involvement of the shoulder girdle (resulting in scapular winging) and the distal muscle groups are observed. Calf hypertrophy, cardiomyopathy, respiratory impairment, tendon contractures, scoliosis, and exercise-induced myoglobinuria may be observed.

ORPHA:119

  • Synonym(s):
    • Beta-sarcoglycanopathy
    • LGMD2E
    • Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood, Adolescent
  • ICD-10: G71.0
  • OMIM: 604286
  • UMLS: C1858593  C2930900
  • MeSH: -
  • GARD: 3851
  • MedDRA: -

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