National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Limb-girdle muscular dystrophy


Other Names:
Limb girdle muscular dystrophy; LGMD
Subtypes:
Epidermolysa bullosa simplex with muscular dystrophy; Limb-girdle muscular dystrophy type 1A; Limb-girdle muscular dystrophy type 1B; Epidermolysa bullosa simplex with muscular dystrophy; Limb-girdle muscular dystrophy type 1A; Limb-girdle muscular dystrophy type 1B; Limb-girdle muscular dystrophy type 1C; Limb-girdle muscular dystrophy type 1D; Limb-girdle muscular dystrophy type 1E; Limb-girdle muscular dystrophy type 1F; Limb-girdle muscular dystrophy type 1G; Limb-girdle muscular dystrophy type 1H; Limb-girdle muscular dystrophy type 2A; Limb-girdle muscular dystrophy type 2B; Limb-girdle muscular dystrophy type 2E; Limb-girdle muscular dystrophy type 2F; Limb-girdle muscular dystrophy type 2H; Limb-girdle muscular dystrophy type 2I; Limb-girdle muscular dystrophy type 2J; Limb-girdle muscular dystrophy type 2K; Limb-girdle muscular dystrophy type 2L; Limb-girdle muscular dystrophy type 2M; Limb-girdle muscular dystrophy type 2N; Limb-girdle muscular dystrophy type 2O; Limb-girdle muscular dystrophy type 2Q ; Limb-girdle muscular dystrophy type 2S; Limb-girdle muscular dystrophy type 2T; Limb-girdle muscular dystrophy, type 2C; Limb-girdle muscular dystrophy, type 2D; Limb-girdle muscular dystrophy, type 2G See More
This disease is grouped under:
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]
Last updated: 12/17/2015
Limb-girdle muscular dystrophy (LGMD) is most often inherited in an autosomal recessive manner; less commonly, rare sub-types may be inherited in an autosomal dominant manner.  There may be difficulties diagnosing the condition accurately, and often the mode of inheritance cannot be determined. Therefore, it may be challenging to determine the exact recurrence risks for some families.

Establishing the type of LGMD in an affected individual can be useful for discussing the clinical course of the disease as well as for determining who else in the family may be at risk for the condition.[4]
Last updated: 2/23/2012

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.
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]
Last updated: 11/18/2016

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.

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
The differential diagnosis of LGMD includes facioscapulohumeral muscular dystrophy, Emery-Dreifuss muscular dystrophy, congenital muscular dystrophy, polymyositis, myotonic, myofibrillar, distal and metabolic myopathy, collagen 6-related disorders and dermatomyosistis.
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Limb-girdle muscular dystrophy. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
  • Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition. 

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Limb-girdle muscular dystrophy. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for Limb-girdle muscular dystrophy:
    International LGMD2D Patient Registry
     

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 Supporting this Disease

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Community Resources

  • The Job Accommodation Network (JAN) has information on workplace accommodations and disability employment issues related to this condition. JAN is a service of the Office of Disability Employment Policy in the U.S. Department of Labor.

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

  • Genetics Home Reference (GHR) contains information on Limb-girdle muscular dystrophy. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • 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.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  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; http://ghr.nlm.nih.gov/condition/limb-girdle-muscular-dystrophy.
  3. Haldeman-Enlert C. Limb-girdle muscular dystrophies. MedlinePlus. February 2014; http://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; http://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; http://emedicine.medscape.com/article/1170911. Accessed 11/18/2016.