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Disease Profile

Limb-girdle muscular dystrophy

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

1-9 / 100 000

US Estimated

Europe Estimated

Age of onset

All ages

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ICD-10

G71.0

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Limb girdle muscular dystrophy; LGMD

Summary

Limb-girdle muscular dystrophy is a group of disorders which affect the voluntary muscles around the hips and shoulders. The conditions are progressive, leading to a loss of muscle strength and bulk over a number of years. Onset may occur in childhood, adolescence, young adulthood, or even later. Males and females are affected in equal numbers.[1] Most forms of limb girdle muscular dystrophy are inherited in an autosomal recessive manner. Several rare forms are inherited in an autosomal dominant pattern.[2] While there are no treatments which directly reverse the muscle weakness associated with this condition, supportive treatment can decrease the complications.[3] There are at least 20 different types of limb-girdle muscular dystrophy.[1]

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • Orphanet lists international laboratories offering diagnostic testing for this condition.

    Treatment

    Unfortunately, no definitive treatments for LGMD exist. Management depends on each individual and the specific type of LGMD that the individual has. However, the American Academy of Neurology has developed guidelines for treatment of LGMD including:[5][6]

    • Weight control to avoid obesity
    • Physical therapy and stretching exercises to promote mobility and prevent contractures (fixed tightening of the muscles)
    • Use of mechanical aids such as canes, walkers, orthotics, and wheelchairs as needed to help ambulation and mobility
    • Monitoring and surgical intervention as needed for orthopedic complications, such as foot deformity and scoliosis
    • Monitoring respiratory function and use of respiratory aids when needed
    • Monitoring for evidence of cardiomyopathy in the types of LGMD with known occurrence of cardiac involvement
    • Monitoring of weight given the potential for swallowing issues (dysphagia) and use of nutritional supplementation as needed
    • Social and emotional support and stimulation to maximize a sense of social involvement and productivity, and to reduce the sense of social isolation common in these disorders

    A team approach to treatment is recommended including a neurologist, pulmonologist, cardiologist, orthopedic surgeon, physiatrist, physical/occupational/speech therapist, nutritionist, orthopedist, mental health counselors, and geneticist/genetic counselor.[5][6]

    While not a currently available treatment option, some studies have shown promising results with the use of gene therapy. More research is needed to prove the safety and efficacy of this treatment approach.[6]

    Management Guidelines

    • The American Academy of Neurology (AAN), the medical specialty society of neurologists, offers a summary of recommended guidelines for Limb-girdle muscular dystrophy
    • Project OrphanAnesthesia is a project whose aim is to create peer-reviewed, readily accessible guidelines for patients with rare diseases and for the anesthesiologists caring for them. The project is a collaborative effort of the German Society of Anesthesiology and Intensive Care, Orphanet, the European Society of Pediatric Anesthesia, anesthetists and rare disease experts with the aim to contribute to patient safety.

      Organizations

      Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

      Organizations Providing General Support

        Learn more

        These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

        Where to Start

        • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
        • Genetics Home Reference (GHR) contains information on Limb-girdle muscular dystrophy. This website is maintained by the National Library of Medicine.
        • The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
        • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

          In-Depth Information

          • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
          • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
          • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
          • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
          • PubMed is a searchable database of medical literature and lists journal articles that discuss Limb-girdle muscular dystrophy. Click on the link to view a sample search on this topic.

            References

            1. Limb-Girdle Muscular Dystrophy (LGMD). Muscular Dystrophy Association (MDA). https://www.mda.org/disease/limb-girdle-muscular-dystrophy. Accessed 12/17/2017.
            2. Limb-girdle muscular dystrophy. Genetics Home Reference (GHR). December 2014; https://ghr.nlm.nih.gov/condition/limb-girdle-muscular-dystrophy.
            3. Haldeman-Enlert C. Limb-girdle muscular dystrophies. MedlinePlus. February 2014; https://www.nlm.nih.gov/medlineplus/ency/article/000711.htm. Accessed 12/17/2015.
            4. Elena Pegoraro & Eric P Hoffman. Limb-Girdle Muscular Dystrophy Overview. GeneReviews. August 30, 2012; https://www.ncbi.nlm.nih.gov/books/NBK1408/. Accessed 5/27/2015.
            5. Erynn Gordon, Elena Pegoraro, Eric P Hoffman. Limb-Girdle Muscular Dystrophy Overview. GeneReviews. August 30, 2012; https://www.ncbi.nlm.nih.gov/books/NBK1408. Accessed 11/18/2016.
            6. Lopate, G. Limb-Girdle Muscular Dystrophy. Medscape. Jul 15, 2016; https://emedicine.medscape.com/article/1170911. Accessed 11/18/2016.

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