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Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5

Disease definition

A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported.

ORPHA:353

Classification level: Disorder
  • Synonym(s):
    • Autosomal recessive limb-girdle muscular dystrophy type 2C
    • Gamma-sarcoglycan-related LGMD R5
    • Gamma-sarcoglycanopathy
    • LGMD due to gamma-sarcoglycan deficiency
    • LGMD type 2C
    • LGMD2C
    • Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency
    • Limb-girdle muscular dystrophy type 2C
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: G71.0
  • ICD-11: 8C70.41
  • OMIM: 253700
  • UMLS: C0410173
  • MeSH: -
  • GARD: 2429
  • MedDRA: -

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

Detailed information

General public

Guidelines

Disease review articles

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.