x

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.

Attention

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

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-sarcoglycanopathy
    • Autosomal recessive limb-girdle muscular dystrophy type 2D
    • LGMD2D
    • Limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Adolescent, Childhood
  • ICD-10: G71.0
  • OMIM: 608099
  • UMLS: C1842550  C2936332
  • MeSH: -
  • GARD: 438
  • MedDRA: -

Detailed information

Article for general public

Professionals

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.