Orphanet: TRIM32 related limb girdle muscular dystrophy R8
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TRIM32-related limb-girdle muscular dystrophy R8

Disease definition

A mild subtype of autosomal recessive limb girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second or third decade of life. Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement.

ORPHA:1878

Classification level: Disorder
  • Synonym(s):
    • Autosomal recessive limb-girdle muscular dystrophy type 2H
    • LGMD due to TRIM32 deficiency
    • LGMD type 2H
    • LGMD2H
    • Limb-girdle muscular dystrophy due to TRIM32 deficiency
    • Limb-girdle muscular dystrophy type 2H
    • Sarcotubular myopathy
    • TRIM32-related LGMD R8
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Adolescent, Adult, Childhood
  • ICD-10: G71.0
  • ICD-11: 8C70.41
  • OMIM: 254110
  • UMLS: C0270968
  • MeSH: -
  • GARD: 3844
  • MedDRA: -

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

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