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Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3

Disease definition

A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by childhood onset of progressive proximal weakness of the shoulder and pelvic girdle muscles, resulting in difficulty walking, scapular winging, calf hypertrophy and contractures of the Achilles tendon, which lead to a tiptoe gait pattern. Cardiac and respiratory involvement is rare.

ORPHA:62

Classification level: Disorder
  • Synonym(s):
    • Alpha-sarcoglycan-related LGMD R3
    • Alpha-sarcoglycanopathy
    • Autosomal recessive limb-girdle muscular dystrophy type 2D
    • LGMD due to alpha-sarcoglycan deficiency
    • LGMD type 2D
    • LGMD2D
    • Limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency
    • Limb-girdle muscular dystrophy type 2D
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Adolescent, Childhood
  • ICD-10: G71.0
  • ICD-11: 8C70.41
  • OMIM: 608099
  • UMLS: -
  • MeSH: -
  • GARD: 438
  • 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.