Overview Sarcoglycanopathies: LGMD2C, LGMD2D, LGMD2E and LGMD2F

LGMD2C (γ-sarcoglycan deficiency), LGMD2D (α-sarcoglycan deficiency), LGMD2E (β-sarcoglycan deficiency), and LGMD2F (δ-sarcoglycan deficiency) are also known as sarcoglycanopathies.

LGMD2C, 2D, 2E and 2F are autosomal recessive forms of limb-girdle muscular dystrophy (LGMD).

The age of onset of muscle weakness is variable but most commonly happens in childhood, but can also occur in early adulthood. These forms of LGMD were previously called ‘autosomal recessive muscular dystrophy on childhood’.

Life expectancy is into adulthood and depends upon the identification and treatment of the associated involvement of the heart and the breathing muscles.