Muscular dystrophies are a group of inherited muscle disorders in which one or more genes Genes Genes are segments of deoxyribonucleic acid (DNA) that contain the code for a specific protein that functions in one or more types of cells in the body or the code for functional ribonucleic... read more needed for normal muscle structure and function are defective, leading to muscle weakness Weakness Weakness refers to loss of muscle strength. That is, people cannot move a muscle normally despite trying as hard as they can. However, the term is often misused. Many people with normal muscle... read more and muscle wasting (dystrophy) of varying severity.
As a group, limb-girdle dystrophies are the 4th most common inherited muscle disease. These dystrophies affect 2 to 10 of 100,000 people. Males and females are affected equally.
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 Dominant disorders Genes are segments of deoxyribonucleic acid (DNA) that contain the code for a specific protein that functions in one or more types of cells in the body or code for functional RNA molecules.... read more ). Sometimes a defective gene must be inherited from both parents (autosomal recessive Recessive disorders Genes are segments of deoxyribonucleic acid (DNA) that contain the code for a specific protein that functions in one or more types of cells in the body or code for functional RNA molecules.... read more ).
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 Genetic Screening Before Pregnancy Genetic screening is used to determine whether a couple is at increased risk of having a baby with a hereditary genetic disorder. Hereditary genetic disorders are disorders of chromosomes or... read more 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.
Muscular Dystrophy Association: Information on research, treatment, technology, and support for people living with limb-girdle muscular dystrophy