Limb-girdle muscular dystrophies

LGMDs are a large group of genetic conditions in which there is muscle weakness and wasting (muscular dystrophy).

In most cases, both parents must pass on the non-working gene for a child to have the condition (autosomal recessive inheritance). In some rare types, only one parent needs to pass on the non-working gene to affect the child. This is called autosomal dominant inheritance. For most of these conditions, the non-working gene has been discovered.

An important risk factor is having a family member with muscular dystrophy.

Most often, the first sign is pelvic muscle weakness. Examples of this include trouble standing from a sitting position without using the arms, or difficulty climbing stairs. The weakness starts in childhood to young adulthood.

Other symptoms include:

• Abnormal, sometimes waddling, walk
• Joints that are fixed in a contracted position (late in the condition)
• Large and muscular-looking calves (pseudohypertrophy), which are not actually strong
• Loss of muscle mass, thinning of certain body parts
• Low back pain
• Palpitations or passing-out spells
• Shoulder weakness
• Weakness of the muscles in the face (later in the condition)
• Weakness in the muscles of the lower legs, feet, lower arms, and hands (later in the condition)

Tests may include:

• Blood creatine kinase levels
• DNA testing (molecular genetic testing)
• Echocardiogram
• Electrocardiogram (ECG)
• Electromyogram (EMG) testing
• Muscle biopsy
• Pulmonary function tests

There are no known treatments that reverse the muscle weakness. Gene therapy may become available in the future. Supportive treatment can decrease the complications of the condition.

The condition is managed based on the person's symptoms. It includes:

• Heart monitoring
• Mobility aids
• Physical therapy
• Respiratory care
• Weight control

Surgery is sometimes needed for any bone or joint issues.

The Muscular Dystrophy Association is an excellent resource: www.mda.org

In general, people tend to have weakness that slowly gets worse in affected muscles and spreads.

The condition causes loss of movement. The person may be dependent on a wheelchair within 20 to 30 years.

Heart muscle weakness and abnormal electrical activity of the heart can increase the risk for palpitations, fainting, and sudden death. Most people with this group of conditions live into adulthood, but do not reach their full life expectancy.

People with LGMD may experience complications such as:

• Abnormal heart rhythms
• Contractures of the joints
• Difficulties with activities of daily living due to shoulder weakness
• Progressive weakness, which may lead to needing a wheelchair

Contact your health care provider if you or your child feels weak while rising from a squatting position. Contact a geneticist if you or a family member has been diagnosed with muscular dystrophy, and you are planning a pregnancy.

Genetic counseling is now offered to affected individuals and their families. Soon molecular testing will involve whole genome sequencing on patients and their relatives to better establish the diagnosis. Genetic counseling may help some couples and families learn about the risks and help with family planning. It also allows connecting patients with diseases registries and patient organizations.

Some of the complications can be prevented with appropriate treatment. For example, a cardiac pacemaker or defibrillator can greatly reduce the risk for sudden death due to an abnormal heart rhythm. Physical therapy may be able to prevent or delay contractures and improve quality of life.

Affected people may want to do DNA banking. DNA testing is recommended for those who are affected. This helps to identify the family gene variant. Once the variant is found, prenatal DNA testing, testing for carriers, and pre-implantation genetic diagnosis are possible.

Muscular dystrophy - limb-girdle type (LGMD)

Doughty CT, Amato AA. Disorders of skeletal muscle. In: Jankovic J, Mazziotta JC, Pomeroy SL, Newman NJ, eds. Bradley and Daroff's Neurology in Clinical Practice. 8th ed. Philadelphia, PA: Elsevier; 2022:chap 109.

Genetic and Rare Diseases Information Center (GARD). Limb-girdle muscular dystrophy. rarediseases.info.nih.gov/diseases/6907/limb-girdle-muscular-dystrophy. Updated December 2025. Accessed January 24, 2026.

Liewluck T. Limb-Girdle Muscular Dystrophies. Continuum (Minneap Minn). 2025;31(5):1344-1371. PMID: 41037170 pubmed.ncbi.nlm.nih.gov/41037170/.

Manzur AY. Muscular dystrophies. In: Kliegman RM, St. Geme JW, Blum NJ, et al, eds. Nelson Textbook of Pediatrics. 22nd ed. Philadelphia, PA: Elsevier; 2025:chap 649.

Muscular Dystrophy Association website. Limb-girdle muscular dystrophy (LGMD). www.mda.org/disease/limb-girdle-muscular-dystrophy. Updated March 2025. Accessed December 22, 2025.

Selcen D. Muscle diseases. In: Goldman L, Cooney KA, eds. Goldman-Cecil Medicine. 27th ed. Philadelphia, PA: Elsevier; 2024:chap 389.

Updated by: Joseph V. Campellone, MD, Department of Neurology, Cooper Medical School at Rowan University, Camden, NJ. Review provided by VeriMed Healthcare Network. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.