8C70

Muscular dystrophy

Distrofia muscular

Category

Definition

Progressive, hereditary skeletal muscle diseases characterised by muscle weakness, wasting, defects in muscle proteins, necrosis of muscle tissue and replacement of muscle tissue with connective and fatty tissue.

Diagnostic Criteria

Signs & symptoms: A heterogeneous group of inherited myopathies, characterized by wasting and weakness of the skeletal muscle. They are categorized by the sites of muscle weakness, age of onset, and inheritance pattern. Types include: Severe dystrophin-deficient Duchenne muscular dystrophy, Benign dystrophin-deficient Becker-type muscular dystrophy, Emery-Dreifuss muscular dystrophy, Facioscapulohumeral muscular dystrophy, and Limb-girdle muscular dystrophy.

Subcategories (7)