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GMPPB-related limb-girdle muscular dystrophy R19

Disease definition

A form of limb-girdle muscular dystrophy, that can present from birth to early childhood, characterized by hypotonia, microcephaly, mild proximal muscle weakness (leading to delayed walking and difficulty climbing stairs), mild intellectual disability and epilepsy. Additional manifestations reported in some patients include cataracts, nystagmus, cardiomyopathy, and respiratory insufficiency.


Classification level: Disorder
  • Synonym(s):
    • Autosomal recessive limb-girdle muscular dystrophy type 2T
    • GMPPB-related LGMD R19
    • LGMD type 2T
    • LGMD2T
    • Limb-girdle muscular dystrophy type 2T
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood, Infancy, Neonatal
  • ICD-10: G71.2
  • OMIM: 615352
  • UMLS: C4518000
  • MeSH: -
  • GARD: 12544
  • MedDRA: -

Detailed information

General public


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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