Muscular dystrophy, limb-girdle

One of a group of diseases that may begin in childhood or later with slowly progressive weakness and wasting of the muscles restricted to the limb musculature, especially to the hips and shoulders.

Muscle biopsies of the limb-girdle muscular dystrophies typically show degeneration and regeneration of muscle (dystrophic biopsy).

There is usually an elevated CPK (creatine phosphokinase) in the blood.

Most patients show relative sparing of the heart and bulbar muscles.

The limb-girdle muscular dystrophies are caused a number of genetic defects and can affect both males and females.

Inheritance is usually autosomal recessive or, more rarely, autosomal dominant