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POMGNT2-related limb-girdle muscular dystrophy R24

Disease definition

A rare autosomal recessive limb-girdle muscular dystrophy characterized by infantile to adolescent onset of a milder form of limb-girdle muscular dystrophy with or without intellectual disability. Patients present variable proximal limb muscular weakness with calf hypertrophy and elevated serum creatine kinase.


Classification level: Disorder
  • Synonym(s):
    • LGMD type R24
    • Limb-girdle muscular dystrophy type R24
    • POMGNT2-related LGMD R24
    • POMGNT2-related muscular dystrophy
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Infancy, Adolescent
  • ICD-10: G71.0
  • OMIM: 618135
  • UMLS: C5680123
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information


Clinical Outcome Assessment (COA)

  • Patient-Centered Outcome Measures (PCOMs)
  • English (2023) - PROQOLIDTM
ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)
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