Orphanet: Titin related limb girdle muscular dystrophy R10
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Titin-related limb-girdle muscular dystrophy R10

Disease definition

A form of limb-girdle muscular dystrophy that usually has a childhood onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset.

ORPHA:140922

Classification level: Disorder
  • Synonym(s):
    • Autosomal recessive limb-girdle muscular dystrophy type 2J
    • LGMD type 2J
    • LGMD2J
    • Limb-girdle muscular dystrophy type 2J
    • Titin-related LGMD R10
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood, Adolescent, Adult
  • ICD-10: G71.0
  • OMIM: 608807
  • UMLS: C1837342
  • MeSH: -
  • GARD: 12534
  • MedDRA: -

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

Detailed information

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ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)

Additional information

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