Catalog

Limb-girdle muscular dystrophy 2D, alpha-sarcoglycan deficiency

No MMS code

Link to WHO Definition

Limb-girdle muscular dystrophy 2D, alpha-sarcoglycan deficiency – http://id.who.int/icd/entity/1066309170

Autosomal recessive limb-girdle muscular dystrophy (LGMD) type 2D belongs to the group of LGMD, that are genetically determined, progressive muscle weakness disorders, in which the pelvic or shoulder girdle musculature is predominantly or primarily involved. LGMD2D is a sarcoglycanopathy characterised by scapular winging and calf hypertrophy with cardiac involvement in about 20% of cases.