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Limb-Girdle Dystrophy


Michael Rubin

, MDCM, New York Presbyterian Hospital-Cornell Medical Center

Last full review/revision Jul 2020| Content last modified Jul 2020
Click here for the Professional Version

Limb-girdle dystrophy encompasses a group of muscular dystrophies that can be inherited in various ways. The muscles of the shoulder or pelvis are affected.

Muscular dystrophies are a group of inherited muscle disorders in which one or more genes needed for normal muscle structure and function are defective, leading to muscle weakness and muscle wasting (dystrophy) of varying severity.

Forms of limb-girdle dystrophy can be inherited in various ways because different genes may be involved. Sometimes only one defective gene is needed, which can be inherited from either parent (autosomal dominant). Sometimes a defective gene must be inherited form both parents (autosomal recessive).

Limb-girdle dystrophy causes weakness in the muscles of either the pelvis (Leyden-Möbius muscular dystrophy) or the shoulder (Erb muscular dystrophy). Males and females are affected equally. These inherited disorders often begin in early childhood but may not begin until adulthood. They rarely cause serious weakness.

Diagnosis of Limb-Girdle Dystrophy

  • Genetic testing

  • Muscle biopsy

The diagnosis of limb-girdle dystrophy is based on characteristic symptoms, the person's age when symptoms began, and family history.

Doctors usually do a muscle biopsy and genetic testing to confirm the diagnosis.

Treatment of Limb-Girdle Dystrophy

  • Maintenance of function and prevention of contractures

Treatment of limb-girdle dystrophy is focused on maintaining muscle function and preventing the muscles from freezing in permanent, flexed positions called contractures.

More Information

The following is an English-language resource that may be useful. Please note that THE MANUAL is not responsible for the content of this resource.

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