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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.

ORPHA:565899

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: -

  A summary on this disease is available in Español (2023) Nederlands (2023)

Detailed information

Guidelines

Clinical Outcome Assessment (COA)

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

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.