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Alpha-dystroglycan-related limb-girdle muscular dystrophy R16

Disease definition

A form of limb-girdle muscular dystrophy characterized by slowly-progressive, mainly proximal, muscle weakness presenting in early childhood (with difficulties walking and climbing stairs) and mild to severe intellectual disability. Additional manifestations reported include microcephaly, mild increase in thigh or calf muscles, and contractures of the ankles.

ORPHA:280333

Classification level: Disorder
  • Synonym(s):
    • Alpha-dystroglycan-related LGMD R16
    • Autosomal recessive limb-girdle muscular dystrophy type 2P
    • LGMD type 2P
    • LGMD2P
    • Limb-girdle muscular dystrophy type 2P
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: G71.0
  • OMIM: 613818
  • UMLS: -
  • MeSH: -
  • GARD: 12541
  • MedDRA: -

Detailed information

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