Orphanet: Fukutin related limb girdle muscular dystrophy R13

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Fukutin-related limb-girdle muscular dystrophy R13

Disease definition

A form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases.


Classification level: Disorder
  • Synonym(s):
    • Autosomal recessive LGMD type 2M
    • Autosomal recessive limb-girdle muscular dystrophy type 2M
    • Fukutin-related LGMD R13
    • LGMD type 2M
    • LGMD2M
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy
  • ICD-10: G71.0
  • OMIM: 611588
  • UMLS: C1969040
  • MeSH: -
  • GARD: 12538
  • MedDRA: -

Detailed information

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