Limb Girdle Muscular Dystrophy

The Limb Girdle muscular dystrophies (LGMD) comprise at least a dozen different specific entities. Each of these distinct disorders is in itself rare. Patients with LGMD usually begin to have symptoms in adolescence or early adulthood, however, some forms of LGMD are more severe with symptoms beginning in childhood. Typically, these symptoms include weakness in the shoulders, hips, upper arms and legs. For example, patients may have progressive difficulty lifting or climbing stairs. In some forms of LGMD, the heart muscle is also affected. Although LGMD is inherited, there is frequently no family history of this disorder.

Diagnosis and Treatment

The diagnosis of LGMD is based on the clinical history, including a possible family history, physical examination and supporting laboratory studies. For some of the LGMDs, it is possible to make a definitive diagnosis by a blood test to determine the specific genetic defect responsible for symptoms. Our genetics counselor will carefully review the history of disease with each family, discuss the principles of inheritance and help weigh risks and benefits of genetic testing of various family members. In other situations, additional laboratory studies are necessary to make a diagnosis including electrodiagnostic testing (EMG) and muscle biopsy. Muscle biopsy is often helpful to determine if weakness is caused by muscular dystrophy, an inherited disorder, or by other acquired causes of muscle degeneration such as from inflammation or toxic exposure.

Treatment of LGMD is by a multidisciplinary team. A neurologist oversees the various needs of the patient and directs care. Specialists in rehabilitation medicine are present during the MDA clinic to meet with patients and provide individualized exercise and stretching programs for the treatment of weakness and contractures. Also on the same day, the patient will be evaluated for the need for splints and orthotics to help with hand or foot function. Equipment needs as well as social and financial needs are addressed. Other services, such as from an orthopedic surgeon, for further treatment of contractures or scoliosis, or from a cardiologist, for the treatment of cardiomyopathy or cardiac arrhythmias, are available as needed and are provided by physicians with special interest and expertise in MDA diagnoses.