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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.

ORPHA:363623

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: -

  A summary on this disease is available in Deutsch (2017) Español (2017) Français (2017) Italiano (2017) Nederlands (2017)

Detailed information

General public

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.