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What are the limb girdle muscular dystrophies?
Limb girdle muscular dystrophies are genetically heterogeneous disorders grouped together because they commonly present with slowly progressive, limb-girdle (or shoulder and pelvic muscle) weakness.
Symptoms onset may occur from childhood to adulthood. However, one gene may cause variable phenotypes, even within the same family (e.g., mutations in dysferlin may cause proximal or distal weakness).
CK levels can range from normal to severely elevated. Muscle biopsy will show dystrophic changes.
How are limb girdle muscular dystrophies classified?
Disorders are classified as type 1 (autosomal dominant) or type 2 (autosomal recessive).
Letters are used to identify the specific genes involved and are assigned in the order of gene discovery.
