ICD-11

Limb-girdle muscular dystrophy (LGMD) constitutes a group of genetically determined, progressive disorders of muscles, in which the pelvic or shoulder girdle musculature is predominantly or primarily involved. It may be inherited in an autosomal recessive or dominant fashion.

Autosomal recessive limb girdle muscular dystrophies (LGMD2) are a group of genetically heterogeneous diseases that are typically characterised by progressive weakness and wasting of the shoulder and pelvic girdle muscles. Many of the more than 20 different conditions show overlapping clinical features with other forms of muscular dystrophy, congenital, myofibrillar or even distal myopathies and also with acquired muscle diseases. Although individually extremely rare, all types of LGMD2 together form an important differential diagnostic group among neuromuscular diseases.